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Volumn 17, Issue 3, 2017, Pages

Update on the Genetics of Dystonia

Author keywords

Classification; Dystonia; Mutation; Next generation sequencing; Nomenclature; Novel genes

Indexed keywords

ANO3 GENE; ATP1A3 GENE; DYSTONIA; GCH1 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; GENETICS; GNAL GENE; HUMAN; KMT2B GENE; LOSS OF FUNCTION MUTATION; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOPHYSIOLOGY; PRKRA GENE; REVIEW; SGCE GENE; TAF1 GENE; THAP1 GENE; TOR1A GENE; TUBB4A GENE; VAC14 GENE; DYSTONIC DISORDER; MUTATION;

EID: 85014937152     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-017-0735-0     Document Type: Review
Times cited : (90)

References (104)
  • 1
    • 0001473859 scopus 로고
    • Ueber eigenenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia Musculorum Deformans)
    • Oppenheim H. Ueber eigenenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia Musculorum Deformans). Neurol Centrabl. 1911;30:1090.
    • (1911) Neurol Centrabl , vol.30 , pp. 1090
    • Oppenheim, H.1
  • 2
    • 84880833855 scopus 로고    scopus 로고
    • Translation of Oppenheim’s 1911 paper on dystonia
    • C. Klein, S. Fahn 28 (2013) 851-862. This is a translation and commentary of Oppenheim’s landmark paper coining the term dystonia and most likely describing the first cases of generalized dystonia due to mutations in Tor1A (formerly DYT1) and suspecting a genetic etiology
    • • C. Klein, S. Fahn, Translation of Oppenheim’s 1911 paper on dystonia, Mov Disord 28 (2013) 851-862. This is a translation and commentary of Oppenheim’s landmark paper coining the term dystonia and most likely describing the first cases of generalized dystonia due to mutations in Tor1A (formerly DYT1) and suspecting a genetic etiology.
    • Mov Disord
  • 3
    • 84871807277 scopus 로고    scopus 로고
    • The prevalence of primary dystonia: a systematic review and meta-analysis
    • PID: 23114997
    • Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012;27:1789–96.
    • (2012) Mov Disord , vol.27 , pp. 1789-1796
    • Steeves, T.D.1    Day, L.2    Dykeman, J.3    Jette, N.4    Pringsheim, T.5
  • 4
    • 84880772785 scopus 로고    scopus 로고
    • Phenomenology and classification of dystonia: a consensus update
    • PID: 23649720, This is an important paper that revises the definition and classification of dystonia based on a consensus outcome of an international expert panel. The new classification contains two axes: clinical characteristics and etiology. The latter one replaces the terms “primary” and “dystonia-plus” dystonia with “isolated” and “combined” dystonia, respectively
    • • Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73. This is an important paper that revises the definition and classification of dystonia based on a consensus outcome of an international expert panel. The new classification contains two axes: clinical characteristics and etiology. The latter one replaces the terms “primary” and “dystonia-plus” dystonia with “isolated” and “combined” dystonia, respectively.
    • (2013) Mov Disord , vol.28 , pp. 863-873
    • Albanese, A.1    Bhatia, K.2    Bressman, S.B.3    Delong, M.R.4    Fahn, S.5    Fung, V.S.6
  • 5
    • 84955701039 scopus 로고    scopus 로고
    • Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study
    • PID: 26306696
    • Wang L, Chen Y, Hu B, Hu X. Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study. Neurol Sci. 2016;37:111–6.
    • (2016) Neurol Sci , vol.37 , pp. 111-116
    • Wang, L.1    Chen, Y.2    Hu, B.3    Hu, X.4
  • 8
    • 65249128525 scopus 로고    scopus 로고
    • Etiology of musician’s dystonia: familial or environmental?
    • COI: 1:STN:280:DC%2BD1M3mt1amuw%3D%3D, PID: 19349605
    • Schmidt A, Jabusch HC, Altenmuller E, Hagenah J, Bruggemann N, Lohmann K, et al. Etiology of musician’s dystonia: familial or environmental? Neurology. 2009;72:1248–54.
    • (2009) Neurology , vol.72 , pp. 1248-1254
    • Schmidt, A.1    Jabusch, H.C.2    Altenmuller, E.3    Hagenah, J.4    Bruggemann, N.5    Lohmann, K.6
  • 11
    • 85014918362 scopus 로고    scopus 로고
    • Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
    • M. Zech, S. Boesch, A. Jochim, S. Weber, T. Meindl, B. Schormair, T. Wieland, C. Lunetta, V. Sansone, M. Messner, J. Mueller, A. Ceballos-Baumann, T.M. Strom, R. Colombo, W. Poewe, B. Haslinger, J. Winkelmann (2016). This is a relevant paper in two respects: first, it uses exome sequencing to detect the cause of dystonia in a small group of patients underlining the heterogeneity of dystonia. Second, it described the first de novo mutation in ANO3 providing increasing evidence for a pathogenic role of mutations in this gene
    • • M. Zech, S. Boesch, A. Jochim, S. Weber, T. Meindl, B. Schormair, T. Wieland, C. Lunetta, V. Sansone, M. Messner, J. Mueller, A. Ceballos-Baumann, T.M. Strom, R. Colombo, W. Poewe, B. Haslinger, J. Winkelmann, Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up, Mov Disord (2016). This is a relevant paper in two respects: first, it uses exome sequencing to detect the cause of dystonia in a small group of patients underlining the heterogeneity of dystonia. Second, it described the first de novo mutation in ANO3 providing increasing evidence for a pathogenic role of mutations in this gene.
    • Mov Disord
  • 12
    • 84963550642 scopus 로고    scopus 로고
    • Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force
    • PID: 27079681, This paper is of major importance since it suggests a new nomenclature system for genetic movement disorders based on extensive considerations and discussions among an expert panel and members of the Movement Disorder Society
    • •• Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, et al. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016;31:436–57. This paper is of major importance since it suggests a new nomenclature system for genetic movement disorders based on extensive considerations and discussions among an expert panel and members of the Movement Disorder Society.
    • (2016) Mov Disord , vol.31 , pp. 436-457
    • Marras, C.1    Lang, A.2    van de Warrenburg, B.P.3    Sue, C.M.4    Tabrizi, S.J.5    Bertram, L.6
  • 13
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • COI: 1:CAS:528:DyaK2sXlvVCrsr0%3D, PID: 9288096
    • Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17:40–8.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3    Bressman, S.B.4    Kramer, P.L.5    Shalish, C.6
  • 14
    • 84860811822 scopus 로고    scopus 로고
    • Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
    • PID: 22454269
    • Marras C, Lohmann K, Lang A, Klein C. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology. 2012;78:1016–24.
    • (2012) Neurology , vol.78 , pp. 1016-1024
    • Marras, C.1    Lohmann, K.2    Lang, A.3    Klein, C.4
  • 15
    • 84962488952 scopus 로고    scopus 로고
    • Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing
    • COI: 1:CAS:528:DC%2BC28XmtVeitL0%3D, PID: 26991507
    • Domingo A, Erro R, Lohmann K. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord. 2016;31:471–7.
    • (2016) Mov Disord , vol.31 , pp. 471-477
    • Domingo, A.1    Erro, R.2    Lohmann, K.3
  • 16
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • COI: 1:CAS:528:DC%2BD1MXht1ehsrg%3D, PID: 19182804
    • Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009;41:286–8.
    • (2009) Nat Genet , vol.41 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3    Raymond, D.4    Ehrlich, M.E.5    Bressman, S.B.6
  • 18
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • COI: 1:CAS:528:DyaK2MXitVOgtLk%3D, PID: 7874165
    • Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994;8:236–42.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3    Seki, N.4    Hori, T.5    Segawa, M.6
  • 19
    • 3242700773 scopus 로고    scopus 로고
    • Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • PID: 15260953
    • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169–75.
    • (2004) Neuron , vol.43 , pp. 169-175
    • de Carvalho Aguiar, P.1    Sweadner, K.J.2    Penniston, J.T.3    Zaremba, J.4    Liu, L.5    Caton, M.6
  • 20
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    • COI: 1:CAS:528:DC%2BD3MXmvFGmt7g%3D, PID: 11528394
    • Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29:66–9.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3    Naumann, M.4    Berg, D.5    Bertram, M.6
  • 21
    • 84866393186 scopus 로고    scopus 로고
    • The genetics of dystonia
    • COI: 1:CAS:528:DC%2BC38XhslWktbjE, PID: 22989765
    • LeDoux MS. The genetics of dystonia. Adv Genet. 2012;79:35–85.
    • (2012) Adv Genet , vol.79 , pp. 35-85
    • LeDoux, M.S.1
  • 22
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • COI: 1:STN:280:DC%2BD3c3msVCntw%3D%3D, PID: 10802779
    • Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746–52.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3    de Leon, D.4    Klein, C.5    Kramer, P.L.6
  • 24
  • 25
    • 84979765542 scopus 로고    scopus 로고
    • Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls
    • PID: 27477622
    • Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, et al. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. Parkinsonism Relat Disord. 2016;31:119–23.
    • (2016) Parkinsonism Relat Disord , vol.31 , pp. 119-123
    • Zech, M.1    Jochim, A.2    Boesch, S.3    Weber, S.4    Meindl, T.5    Peters, A.6
  • 26
    • 84905994302 scopus 로고    scopus 로고
    • Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A
    • COI: 1:CAS:528:DC%2BC2cXhtlynu7vJ, PID: 24930953
    • Hettich J, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, et al. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. Hum Mutat. 2014;35:1101–13.
    • (2014) Hum Mutat , vol.35 , pp. 1101-1113
    • Hettich, J.1    Ryan, S.D.2    de Souza, O.N.3    Saraiva Macedo Timmers, L.F.4    Tsai, S.5    Atai, N.A.6
  • 27
    • 10744223557 scopus 로고    scopus 로고
    • Mutations in DYT1: extension of the phenotypic and mutational spectrum
    • COI: 1:CAS:528:DC%2BD2cXlvFWnuw%3D%3D, PID: 14872019
    • Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004;62:395–400.
    • (2004) Neurology , vol.62 , pp. 395-400
    • Kabakci, K.1    Hedrich, K.2    Leung, J.C.3    Mitterer, M.4    Vieregge, P.5    Lencer, R.6
  • 28
    • 84924177907 scopus 로고    scopus 로고
    • Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia
    • Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, et al. 2015;84:895–903. This paper provides a translational aspect on the partially differential clinical outcome after deep brain stimulation in carriers of mutations in different dystonia genes
    • • Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, et al. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015;84:895–903. This paper provides a translational aspect on the partially differential clinical outcome after deep brain stimulation in carriers of mutations in different dystonia genes.
    • Neurology
  • 29
    • 1642433201 scopus 로고    scopus 로고
    • Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
    • COI: 1:CAS:528:DC%2BD2cXhsVWgsr4%3D, PID: 14711988
    • Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA. 2004;101:847–52.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 847-852
    • Goodchild, R.E.1    Dauer, W.T.2
  • 31
    • 70350463845 scopus 로고    scopus 로고
    • Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion
    • COI: 1:CAS:528:DC%2BD1MXht1Sqsb7E, PID: 19651773
    • Naismith TV, Dalal S, Hanson PI. Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. J Biol Chem. 2009;284:27866–74.
    • (2009) J Biol Chem , vol.284 , pp. 27866-27874
    • Naismith, T.V.1    Dalal, S.2    Hanson, P.I.3
  • 32
    • 84983681814 scopus 로고    scopus 로고
    • Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia
    • F.E. Demircioglu, B.A. Sosa, J. Ingram, H.L. Ploegh, T.U. Schwartz, Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia, Elife 5 (2016).
    • (2016) Elife , pp. 5
    • Demircioglu, F.E.1    Sosa, B.A.2    Ingram, J.3    Ploegh, H.L.4    Schwartz, T.U.5
  • 33
    • 84989849754 scopus 로고    scopus 로고
    • Torsins are essential regulators of cellular lipid metabolism
    • Grillet M, Dominguez Gonzalez B, Sicart A, Pottler M, Cascalho A, Billion K, et al. 2016;38:235–47. This is a very important study that links Torsin mutations to dysregulated cellular lipid metabolism and thus suggests a novel disease mechanism in dystonia
    • •• Grillet M, Dominguez Gonzalez B, Sicart A, Pottler M, Cascalho A, Billion K, et al. Torsins are essential regulators of cellular lipid metabolism. Dev Cell. 2016;38:235–47. This is a very important study that links Torsin mutations to dysregulated cellular lipid metabolism and thus suggests a novel disease mechanism in dystonia.
    • Dev Cell
  • 36
    • 84937847343 scopus 로고    scopus 로고
    • Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia
    • COI: 1:CAS:528:DC%2BC2MXht1CrsbrP, PID: 26183317
    • Vanni V, Puglisi F, Bonsi P, Ponterio G, Maltese M, Pisani A, et al. Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. Exp Neurol. 2015;271:457–67.
    • (2015) Exp Neurol , vol.271 , pp. 457-467
    • Vanni, V.1    Puglisi, F.2    Bonsi, P.3    Ponterio, G.4    Maltese, M.5    Pisani, A.6
  • 37
    • 80054715409 scopus 로고    scopus 로고
    • DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene
    • COI: 1:CAS:528:DC%2BC3MXhtlagurrK, PID: 21793105
    • Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, et al. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011;32:1213–24.
    • (2011) Hum Mutat , vol.32 , pp. 1213-1224
    • Blanchard, A.1    Ea, V.2    Roubertie, A.3    Martin, M.4    Coquart, C.5    Claustres, M.6
  • 38
  • 41
    • 84947865929 scopus 로고    scopus 로고
    • Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
    • COI: 1:CAS:528:DC%2BC2MXhslWrsrnK, PID: 26486352
    • Krause P, Bruggemann N, Volzmann S, Horn A, Kupsch A, Schneider GH, et al. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. J Neurol. 2015;262:2739–44.
    • (2015) J Neurol , vol.262 , pp. 2739-2744
    • Krause, P.1    Bruggemann, N.2    Volzmann, S.3    Horn, A.4    Kupsch, A.5    Schneider, G.H.6
  • 42
    • 84965087564 scopus 로고    scopus 로고
    • Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions
    • PID: 25231164
    • Ortiz-Virumbrales M, Ruiz M, Hone E, Dolios G, Wang R, Morant A, et al. Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. Acta Neuropathol Commun. 2014;2:139.
    • (2014) Acta Neuropathol Commun , vol.2 , pp. 139
    • Ortiz-Virumbrales, M.1    Ruiz, M.2    Hone, E.3    Dolios, G.4    Wang, R.5    Morant, A.6
  • 43
    • 78149483955 scopus 로고    scopus 로고
    • Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
    • COI: 1:CAS:528:DC%2BC3cXhsVOrur%2FM, PID: 20865765
    • Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010;68:549–53.
    • (2010) Ann Neurol , vol.68 , pp. 549-553
    • Gavarini, S.1    Cayrol, C.2    Fuchs, T.3    Lyons, N.4    Ehrlich, M.E.5    Girard, J.P.6
  • 44
    • 78149479301 scopus 로고    scopus 로고
    • The dystonia gene DYT1 is repressed by the transcription factor THAP1
    • COI: 1:CAS:528:DC%2BC3cXhsVOrur%2FN, PID: 20976771, DYT6
    • Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1. Ann Neurol. 2010;68:554–9. DYT6.
    • (2010) Ann Neurol , vol.68 , pp. 554-559
    • Kaiser, F.J.1    Osmanoric, A.2    Rakovic, A.3    Erogullari, A.4    Uflacker, N.5    Braunholz, D.6
  • 46
    • 84878508579 scopus 로고    scopus 로고
    • Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia
    • COI: 1:CAS:528:DC%2BC3sXnvVCqtbo%3D, PID: 23449625
    • Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzinska M, Frei KP, et al. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013;22:2510–9.
    • (2013) Hum Mol Genet , vol.22 , pp. 2510-2519
    • Vemula, S.R.1    Puschmann, A.2    Xiao, J.3    Zhao, Y.4    Rudzinska, M.5    Frei, K.P.6
  • 47
    • 85041889772 scopus 로고    scopus 로고
    • Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
    • Masuho I, Fang M, Geng C, Zhang J, Jiang H, Ozgul RK, et al. 2016;2:e78. This is an interesting case report on a family with homozygous mutations in an actually dominantly inherited disorder. The data are not only descriptive on the phenotypic level but are accompanied by detailed functional analysis of the mutation underlining the importance of functional studies
    • • Masuho I, Fang M, Geng C, Zhang J, Jiang H, Ozgul RK, et al. Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. Neurol Genet. 2016;2:e78. This is an interesting case report on a family with homozygous mutations in an actually dominantly inherited disorder. The data are not only descriptive on the phenotypic level but are accompanied by detailed functional analysis of the mutation underlining the importance of functional studies.
    • Neurol Genet
  • 48
    • 79951478032 scopus 로고    scopus 로고
    • Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
    • PID: 20818608
    • Opladen T, Hoffmann G, Horster F, Hinz AB, Neidhardt K, Klein C, et al. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord. 2011;26:157–61.
    • (2011) Mov Disord , vol.26 , pp. 157-161
    • Opladen, T.1    Hoffmann, G.2    Horster, F.3    Hinz, A.B.4    Neidhardt, K.5    Klein, C.6
  • 50
    • 84949488896 scopus 로고    scopus 로고
    • ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations
    • Chen DH, Meneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, et al. 2015;85:2026–35. This study reports many cases of ADCY5-related dyskinesia with a wide range of hyperkinetic abnormal movements
    • • Chen DH, Meneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, et al. ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations. Neurology. 2015;85:2026–35. This study reports many cases of ADCY5-related dyskinesia with a wide range of hyperkinetic abnormal movements.
    • Neurology
  • 51
    • 84871256724 scopus 로고    scopus 로고
    • Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs
    • V. Tadic, M. Kasten, N. Bruggemann, S. Stiller, J. Hagenah, C. Klein, Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs, Arch Neurol (2012) 1-5.
    • (2012) Arch Neurol , pp. 1-5
    • Tadic, V.1    Kasten, M.2    Bruggemann, N.3    Stiller, S.4    Hagenah, J.5    Klein, C.6
  • 53
  • 54
    • 84939599004 scopus 로고    scopus 로고
    • Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
    • COI: 1:CAS:528:DC%2BC2cXht1ait7%2FP, PID: 25064009
    • Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nat Genet. 2014;46:989–93.
    • (2014) Nat Genet , vol.46 , pp. 989-993
    • Nalls, M.A.1    Pankratz, N.2    Lill, C.M.3    Do, C.B.4    Hernandez, D.G.5    Saad, M.6
  • 55
    • 20044379941 scopus 로고    scopus 로고
    • High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening
    • COI: 1:STN:280:DC%2BD2M7itlajsw%3D%3D, PID: 15753436
    • Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology. 2005;64:908–11.
    • (2005) Neurology , vol.64 , pp. 908-911
    • Hagenah, J.1    Saunders-Pullman, R.2    Hedrich, K.3    Kabakci, K.4    Habermann, K.5    Wiegers, K.6
  • 56
    • 84923945129 scopus 로고    scopus 로고
    • A requirement for Gch1 and tetrahydrobiopterin in embryonic development
    • COI: 1:CAS:528:DC%2BC2MXmtlSqsA%3D%3D, PID: 25557619
    • Douglas G, Hale AB, Crabtree MJ, Ryan BJ, Hansler A, Watschinger K, et al. A requirement for Gch1 and tetrahydrobiopterin in embryonic development. Dev Biol. 2015;399:129–38.
    • (2015) Dev Biol , vol.399 , pp. 129-138
    • Douglas, G.1    Hale, A.B.2    Crabtree, M.J.3    Ryan, B.J.4    Hansler, A.5    Watschinger, K.6
  • 57
    • 84865644476 scopus 로고    scopus 로고
    • Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency
    • PID: 22473768
    • Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, et al. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol. 2012;69:1071–5.
    • (2012) Arch Neurol , vol.69 , pp. 1071-1075
    • Brüggemann, N.1    Spiegler, J.2    Hellenbroich, Y.3    Opladen, T.4    Schneider, S.A.5    Stephani, U.6
  • 58
    • 33947131242 scopus 로고    scopus 로고
    • The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    • PID: 17282997
    • Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007;130:828–35.
    • (2007) Brain , vol.130 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    de Carvalho Aguiar, P.3    Borg, M.4    Frijns, C.J.5    Gollamudi, S.6
  • 59
    • 84919344100 scopus 로고    scopus 로고
    • The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond
    • Sweney MT, Newcomb TM, Swoboda KJ. 2015;52:56–64. This important article illustrates the broad phenotypic spectrum of mutations in a single gene, i.e., ATP1A3
    • • Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52:56–64. This important article illustrates the broad phenotypic spectrum of mutations in a single gene, i.e., ATP1A3.
    • Pediatr Neurol
  • 60
    • 84984656723 scopus 로고    scopus 로고
    • Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform
    • COI: 1:CAS:528:DC%2BC28XhsVSrsbvJ, PID: 27549929
    • Holm TH, Isaksen TJ, Glerup S, Heuck A, Bottger P, Fuchtbauer EM, et al. Cognitive deficits caused by a disease-mutation in the alpha3 Na(+)/K(+)-ATPase isoform. Sci Rep. 2016;6:31972.
    • (2016) Sci Rep , vol.6 , pp. 31972
    • Holm, T.H.1    Isaksen, T.J.2    Glerup, S.3    Heuck, A.4    Bottger, P.5    Fuchtbauer, E.M.6
  • 63
    • 84920982696 scopus 로고    scopus 로고
    • SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
    • COI: 1:CAS:528:DC%2BC2cXhsFyisbzJ, PID: 25209853
    • Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, et al. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. J Neurol. 2014;261:2296–304.
    • (2014) J Neurol , vol.261 , pp. 2296-2304
    • Peall, K.J.1    Kurian, M.A.2    Wardle, M.3    Waite, A.J.4    Hedderly, T.5    Lin, J.P.6
  • 65
    • 0036916437 scopus 로고    scopus 로고
    • Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
    • PID: 12444570
    • Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet. 2002;71:1303–11.
    • (2002) Am J Hum Genet , vol.71 , pp. 1303-1311
    • Müller, B.1    Hedrich, K.2    Kock, N.3    Dragasevic, N.4    Svetel, M.5    Garrels, J.6
  • 66
    • 0033964677 scopus 로고    scopus 로고
    • Sarcoglycans in muscular dystrophy
    • COI: 1:CAS:528:DC%2BD3cXhtlCgtrg%3D, PID: 10679964
    • Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000;48:167–80.
    • (2000) Microsc Res Tech , vol.48 , pp. 167-180
    • Hack, A.A.1    Groh, M.E.2    McNally, E.M.3
  • 67
    • 84961289637 scopus 로고    scopus 로고
    • The sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels
    • Boulay AC, Saubamea B, Cisternino S, Mignon V, Mazeraud A, Jourdren L, et al. 2015;9:9. This functional study highlights a potential disease mechanism of mutations in the SGCE gene by linking the sarcoglycan complex to the cerebrovascular system
    • • Boulay AC, Saubamea B, Cisternino S, Mignon V, Mazeraud A, Jourdren L, et al. The sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels. Front Cell Neurosci. 2015;9:9. This functional study highlights a potential disease mechanism of mutations in the SGCE gene by linking the sarcoglycan complex to the cerebrovascular system.
    • Front Cell Neurosci
  • 68
    • 85014937338 scopus 로고    scopus 로고
    • Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
    • A. Keller, A. Westenberger, M.J. Sobrido, M. Garcia-Murias, A. Domingo, R.L. Sears, R.R. Lemos, A. Ordonez-Ugalde, G. Nicolas, J.E. da Cunha, E.J. Rushing, M. Hugelshofer, M.C. Wurnig, A. Kaech, R. Reimann, K. Lohmann, V. Dobricic, A. Carracedo, I. Petrovic, J.M. Miyasaki, I. Abakumova, M.A. Mae, E. Raschperger, M. Zatz, K. Zschiedrich, J. Klepper, E. Spiteri, J.M. Prieto, I. Navas, M. Preuss, C. Dering, M. Jankovic, M. Paucar, P. Svenningsson, K. Saliminejad, H.R. Khorshid, I. Novakovic, A. Aguzzi, A. Boss, I. Le Ber, G. Defer, D. Hannequin, V.S. Kostic, D. Campion, D.H. Geschwind, G. Coppola, C. Betsholtz, C. Klein, J.R. Oliveira (2013). This comprehensive study elucidated a frequent cause of primary familial brain calcification by identification of mutations in the PDGFB gene. It not only reported the cause of the disease in several multiplex families but also demonstrated corresponding brain calcifications in mouse models at different ages and linked this complex form of dystonia to dysfunction of the blood brain barrier
    • •• A. Keller, A. Westenberger, M.J. Sobrido, M. Garcia-Murias, A. Domingo, R.L. Sears, R.R. Lemos, A. Ordonez-Ugalde, G. Nicolas, J.E. da Cunha, E.J. Rushing, M. Hugelshofer, M.C. Wurnig, A. Kaech, R. Reimann, K. Lohmann, V. Dobricic, A. Carracedo, I. Petrovic, J.M. Miyasaki, I. Abakumova, M.A. Mae, E. Raschperger, M. Zatz, K. Zschiedrich, J. Klepper, E. Spiteri, J.M. Prieto, I. Navas, M. Preuss, C. Dering, M. Jankovic, M. Paucar, P. Svenningsson, K. Saliminejad, H.R. Khorshid, I. Novakovic, A. Aguzzi, A. Boss, I. Le Ber, G. Defer, D. Hannequin, V.S. Kostic, D. Campion, D.H. Geschwind, G. Coppola, C. Betsholtz, C. Klein, J.R. Oliveira, Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice, Nat Genet (2013). This comprehensive study elucidated a frequent cause of primary familial brain calcification by identification of mutations in the PDGFB gene. It not only reported the cause of the disease in several multiplex families but also demonstrated corresponding brain calcifications in mouse models at different ages and linked this complex form of dystonia to dysfunction of the blood brain barrier.
    • Nat Genet
  • 69
    • 84873693930 scopus 로고    scopus 로고
    • Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
    • COI: 1:CAS:528:DC%2BC3sXlt1Oiuw%3D%3D, PID: 23255827
    • Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80:181–7.
    • (2013) Neurology , vol.80 , pp. 181-187
    • Nicolas, G.1    Pottier, C.2    Maltete, D.3    Coutant, S.4    Rovelet-Lecrux, A.5    Legallic, S.6
  • 70
    • 84919625034 scopus 로고    scopus 로고
    • The genetics of primary familial brain calcifications
    • PID: 25212438
    • Westenberger A, Klein C. The genetics of primary familial brain calcifications. Curr Neurol Neurosci Rep. 2014;14:490.
    • (2014) Curr Neurol Neurosci Rep , vol.14 , pp. 490
    • Westenberger, A.1    Klein, C.2
  • 71
    • 39149087968 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
    • COI: 1:CAS:528:DC%2BD1cXjtlyltL8%3D, PID: 18243799
    • Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008;7:207–15.
    • (2008) Lancet Neurol , vol.7 , pp. 207-215
    • Camargos, S.1    Scholz, S.2    Simon-Sanchez, J.3    Paisan-Ruiz, C.4    Lewis, P.5    Hernandez, D.6
  • 72
    • 84878408023 scopus 로고    scopus 로고
    • Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia
    • COI: 1:CAS:528:DC%2BC3sXosFKit70%3D, PID: 23424103
    • Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, et al. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013;73:546–53.
    • (2013) Ann Neurol , vol.73 , pp. 546-553
    • Hersheson, J.1    Mencacci, N.E.2    Davis, M.3    Macdonald, N.4    Trabzuni, D.5    Ryten, M.6
  • 73
    • 84876874253 scopus 로고    scopus 로고
    • Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
    • COI: 1:CAS:528:DC%2BC3sXosFKit7s%3D, PID: 23595291
    • Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013;73:537–45.
    • (2013) Ann Neurol , vol.73 , pp. 537-545
    • Lohmann, K.1    Wilcox, R.A.2    Winkler, S.3    Ramirez, A.4    Rakovic, A.5    Park, J.S.6
  • 74
    • 84870889212 scopus 로고    scopus 로고
    • Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
    • COI: 1:CAS:528:DC%2BC38XhslKqsb7N, PID: 23200863
    • Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91:1041–50.
    • (2012) Am J Hum Genet , vol.91 , pp. 1041-1050
    • Charlesworth, G.1    Plagnol, V.2    Holmstrom, K.M.3    Bras, J.4    Sheerin, U.M.5    Preza, E.6
  • 75
    • 84892921433 scopus 로고    scopus 로고
    • Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
    • COI: 1:CAS:528:DC%2BC2cXhtlajsbk%3D, PID: 24151159
    • Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord. 2014;29:143–7.
    • (2014) Mov Disord , vol.29 , pp. 143-147
    • Zech, M.1    Gross, N.2    Jochim, A.3    Castrop, F.4    Kaffe, M.5    Dresel, C.6
  • 76
    • 0042337403 scopus 로고    scopus 로고
    • Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
    • COI: 1:CAS:528:DC%2BD3sXntFygu7c%3D, PID: 12928496
    • Nolte D, Niemann S, Muller U. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA. 2003;100:10347–52.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 10347-10352
    • Nolte, D.1    Niemann, S.2    Muller, U.3
  • 77
    • 84961285340 scopus 로고    scopus 로고
    • PRKRA mutation causing early-onset generalized dystonia-parkinsonism (DYT16) in an Italian family
    • Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, et al. 2016;31:765–7. This interesting paper confirms biallelic mutations in the PRKRA gene as a cause of dystonia-parkinsonism and demonstrates a founder effect
    • • Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, et al. PRKRA mutation causing early-onset generalized dystonia-parkinsonism (DYT16) in an Italian family. Mov Disord. 2016;31:765–7. This interesting paper confirms biallelic mutations in the PRKRA gene as a cause of dystonia-parkinsonism and demonstrates a founder effect.
    • Mov Disord
  • 78
    • 81955164822 scopus 로고    scopus 로고
    • Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal
    • PID: 21956287
    • Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord. 2011;26:2404–8.
    • (2011) Mov Disord , vol.26 , pp. 2404-2408
    • Wilcox, R.A.1    Winkler, S.2    Lohmann, K.3    Klein, C.4
  • 80
    • 84929656299 scopus 로고    scopus 로고
    • H-ABC syndrome and DYT4: variable expressivity or pleiotropy of TUBB4 mutations?
    • COI: 1:CAS:528:DC%2BC2MXovV2hs7o%3D, PID: 25545912
    • Erro R, Hersheson J, Ganos C, Mencacci NE, Stamelou M, Batla A, et al. H-ABC syndrome and DYT4: variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord. 2015;30:828–33.
    • (2015) Mov Disord , vol.30 , pp. 828-833
    • Erro, R.1    Hersheson, J.2    Ganos, C.3    Mencacci, N.E.4    Stamelou, M.5    Batla, A.6
  • 81
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • PID: 25741868
    • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3    Bick, D.4    Das, S.5    Gastier-Foster, J.6
  • 83
    • 84944153909 scopus 로고    scopus 로고
    • New insights into the genetics of X-linked dystonia-parkinsonism
    • COI: 1:CAS:528:DC%2BC2MXhtFOitbs%3D, PID: 25604858, XDP, DYT3
    • Domingo A, Westenberger A, Lee LV, Braenne I, Liu T, Vater I, et al. New insights into the genetics of X-linked dystonia-parkinsonism. Eur J Hum Genet. 2015;23:1334–40. XDP, DYT3.
    • (2015) Eur J Hum Genet , vol.23 , pp. 1334-1340
    • Domingo, A.1    Westenberger, A.2    Lee, L.V.3    Braenne, I.4    Liu, T.5    Vater, I.6
  • 84
    • 84958252818 scopus 로고    scopus 로고
    • Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
    • COI: 1:CAS:528:DC%2BC28XisFOlt74%3D, PID: 26879577
    • Domingo A, Amar D, Grutz K, Lee LV, Rosales R, Bruggemann N, et al. Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. Cell Mol Life Sci. 2016;73:3205–15.
    • (2016) Cell Mol Life Sci , vol.73 , pp. 3205-3215
    • Domingo, A.1    Amar, D.2    Grutz, K.3    Lee, L.V.4    Rosales, R.5    Bruggemann, N.6
  • 85
    • 84951835643 scopus 로고    scopus 로고
    • TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
    • J.A. O’Rawe, Y. Wu, M.J. Dorfel, A.F. Rope, P.Y. Au, J.S. Parboosingh, S. Moon, M. Kousi, K. Kosma, C.S. Smith, M. Tzetis, J.L. Schuette, R.B. Hufnagel, C.E. Prada, F. Martinez, C. Orellana, J. Crain, A. Caro-Llopis, S. Oltra, S. Monfort, L.T. Jimenez-Barron, J. Swensen, S. Ellingwood, R. Smith, H. Fang, S. Ospina, S. Stegmann, N. Den Hollander, D. Mittelman, G. Highnam, R. Robison, E. Yang, L. Faivre, A. Roubertie, J.B. Riviere, K.G. Monaghan, K. Wang, E.E. Davis, N. Katsanis, V.M. Kalscheuer, E.H. Wang, K. Metcalfe, T. Kleefstra, A.M. Innes, S. Kitsiou-Tzeli, M. Rosello, C.E. Keegan, G.J. Lyon 97 (2015) 922-932. This manuscript describes bona fide mutations in the TAF1 gene, the gene that is also dysregulated in X-linked dystonia-parkinsonism (XDP) due to several disease-specific changes
    • •• J.A. O’Rawe, Y. Wu, M.J. Dorfel, A.F. Rope, P.Y. Au, J.S. Parboosingh, S. Moon, M. Kousi, K. Kosma, C.S. Smith, M. Tzetis, J.L. Schuette, R.B. Hufnagel, C.E. Prada, F. Martinez, C. Orellana, J. Crain, A. Caro-Llopis, S. Oltra, S. Monfort, L.T. Jimenez-Barron, J. Swensen, S. Ellingwood, R. Smith, H. Fang, S. Ospina, S. Stegmann, N. Den Hollander, D. Mittelman, G. Highnam, R. Robison, E. Yang, L. Faivre, A. Roubertie, J.B. Riviere, K.G. Monaghan, K. Wang, E.E. Davis, N. Katsanis, V.M. Kalscheuer, E.H. Wang, K. Metcalfe, T. Kleefstra, A.M. Innes, S. Kitsiou-Tzeli, M. Rosello, C.E. Keegan, G.J. Lyon, TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations, Am J Hum Genet 97 (2015) 922-932. This manuscript describes bona fide mutations in the TAF1 gene, the gene that is also dysregulated in X-linked dystonia-parkinsonism (XDP) due to several disease-specific changes.
    • Am J Hum Genet
  • 86
    • 1542360717 scopus 로고    scopus 로고
    • Focal dystonia as a presenting sign of spinocerebellar ataxia 17
    • PID: 14978680
    • Hagenah JM, Zuhlke C, Hellenbroich Y, Heide W, Klein C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord. 2004;19:217–20.
    • (2004) Mov Disord , vol.19 , pp. 217-220
    • Hagenah, J.M.1    Zuhlke, C.2    Hellenbroich, Y.3    Heide, W.4    Klein, C.5
  • 87
    • 84860913828 scopus 로고    scopus 로고
    • Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5
    • PID: 22782511
    • Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012;69:630–5.
    • (2012) Arch Neurol , vol.69 , pp. 630-635
    • Chen, Y.Z.1    Matsushita, M.M.2    Robertson, P.3    Rieder, M.4    Girirajan, S.5    Antonacci, F.6
  • 88
    • 84924532690 scopus 로고    scopus 로고
    • A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia
    • COI: 1:CAS:528:DC%2BC2MXktVemsrg%3D, PID: 25545163
    • Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, et al. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015;30:423–7.
    • (2015) Mov Disord , vol.30 , pp. 423-427
    • Carapito, R.1    Paul, N.2    Untrau, M.3    Le Gentil, M.4    Ott, L.5    Alsaleh, G.6
  • 90
    • 84963945106 scopus 로고    scopus 로고
    • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
    • S. Petrovski, S. Kury, C.T. Myers, K. Anyane-Yeboa, B. Cogne, M. Bialer, F. Xia, P. Hemati, J. Riviello, M. Mehaffey, T. Besnard, E. Becraft, A. Wadley, A.R. Politi, S. Colombo, X. Zhu, Z. Ren, I. Andrews, T. Dudding-Byth, A.L. Schneider, G. Wallace, A.B. Rosen, S. Schelley, G.M. Enns, P. Corre, J. Dalton, S. Mercier, X. Latypova, S. Schmitt, E. Guzman, C. Moore, L. Bier, E.L. Heinzen, P. Karachunski, N. Shur, T. Grebe, A. Basinger, J.M. Nguyen, S. Bezieau, K. Wierenga, J.A. Bernstein, I.E. Scheffer, J.A. Rosenfeld, H.C. Mefford, B. Isidor, D.B. Goldstein (2016) 1001-1010. This nicely performed screening study elucidated mutations in the GNB1 gene as a rare but recurrent cause of a complex form of dystonia and highlights G protein-mediated signaling as one disease mechanism in dystonia and neurodevelopmental disability
    • •• S. Petrovski, S. Kury, C.T. Myers, K. Anyane-Yeboa, B. Cogne, M. Bialer, F. Xia, P. Hemati, J. Riviello, M. Mehaffey, T. Besnard, E. Becraft, A. Wadley, A.R. Politi, S. Colombo, X. Zhu, Z. Ren, I. Andrews, T. Dudding-Byth, A.L. Schneider, G. Wallace, A.B. Rosen, S. Schelley, G.M. Enns, P. Corre, J. Dalton, S. Mercier, X. Latypova, S. Schmitt, E. Guzman, C. Moore, L. Bier, E.L. Heinzen, P. Karachunski, N. Shur, T. Grebe, A. Basinger, J.M. Nguyen, S. Bezieau, K. Wierenga, J.A. Bernstein, I.E. Scheffer, J.A. Rosenfeld, H.C. Mefford, B. Isidor, D.B. Goldstein, Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures, Am J Hum Genet 98 (2016) 1001-1010. This nicely performed screening study elucidated mutations in the GNB1 gene as a rare but recurrent cause of a complex form of dystonia and highlights G protein-mediated signaling as one disease mechanism in dystonia and neurodevelopmental disability.
    • Am J Hum Genet 98
  • 91
    • 85014893990 scopus 로고    scopus 로고
    • Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
    • PID: 27668284
    • Steinrucke S, Lohmann K, Domingo A, Rolfs A, Baumer T, Spiegler J, et al. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet. 2016;2:e106.
    • (2016) Neurol Genet , vol.2
    • Steinrucke, S.1    Lohmann, K.2    Domingo, A.3    Rolfs, A.4    Baumer, T.5    Spiegler, J.6
  • 93
    • 84883759326 scopus 로고    scopus 로고
    • De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy
    • COI: 1:CAS:528:DC%2BC3sXhtlGqsr7M, PID: 23993195
    • Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, et al. De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013;93:496–505.
    • (2013) Am J Hum Genet , vol.93 , pp. 496-505
    • Nakamura, K.1    Kodera, H.2    Akita, T.3    Shiina, M.4    Kato, M.5    Hoshino, H.6
  • 96
    • 85004144067 scopus 로고    scopus 로고
    • Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia
    • COI: 1:CAS:528:DC%2BC28XhvVeqsrjI, PID: 27839873, This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia
    • •• Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am J Hum Genet. 2016;99:1377–87. This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia.
    • (2016) Am J Hum Genet , vol.99 , pp. 1377-1387
    • Zech, M.1    Boesch, S.2    Maier, E.M.3    Borggraefe, I.4    Vill, K.5    Laccone, F.6
  • 97
    • 85014879123 scopus 로고    scopus 로고
    • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    • E. Meyer, K.J. Carss, J. Rankin, J.M. Nichols, D. Grozeva, A.P. Joseph, N.E. Mencacci, A. Papandreou, J. Ng, S. Barral, A. Ngoh, H. Ben-Pazi, M.A. Willemsen, D. Arkadir, A. Barnicoat, H. Bergman, S. Bhate, A. Boys, N. Darin, N. Foulds, N. Gutowski, A. Hills, H. Houlden, J.A. Hurst, Z. Israel, M. Kaminska, P. Limousin, D. Lumsden, S. McKee, S. Misra, S.S. Mohammed, V. Nakou, J. Nicolai, M. Nilsson, H. Pall, K.J. Peall, G.B. Peters, P. Prabhakar, M.S. Reuter, P. Rump, R. Segel, M. Sinnema, M. Smith, P. Turnpenny, S.M. White, D. Wieczorek, S. Wiethoff, B.T. Wilson, G. Winter, C. Wragg, S. Pope, S.J. Heales, D. Morrogh, A. Pittman, L.J. Carr, B. Perez-Duenas, J.P. Lin, A. Reis, W.A. Gahl, C. Toro, K.P. Bhatia, N.W. Wood, E.J. Kamsteeg, W.K. Chong, P. Gissen, M. Topf, R.C. Dale, J.R. Chubb, F.L. Raymond, M.A. Kurian (2016). This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia
    • •• E. Meyer, K.J. Carss, J. Rankin, J.M. Nichols, D. Grozeva, A.P. Joseph, N.E. Mencacci, A. Papandreou, J. Ng, S. Barral, A. Ngoh, H. Ben-Pazi, M.A. Willemsen, D. Arkadir, A. Barnicoat, H. Bergman, S. Bhate, A. Boys, N. Darin, N. Foulds, N. Gutowski, A. Hills, H. Houlden, J.A. Hurst, Z. Israel, M. Kaminska, P. Limousin, D. Lumsden, S. McKee, S. Misra, S.S. Mohammed, V. Nakou, J. Nicolai, M. Nilsson, H. Pall, K.J. Peall, G.B. Peters, P. Prabhakar, M.S. Reuter, P. Rump, R. Segel, M. Sinnema, M. Smith, P. Turnpenny, S.M. White, D. Wieczorek, S. Wiethoff, B.T. Wilson, G. Winter, C. Wragg, S. Pope, S.J. Heales, D. Morrogh, A. Pittman, L.J. Carr, B. Perez-Duenas, J.P. Lin, A. Reis, W.A. Gahl, C. Toro, K.P. Bhatia, N.W. Wood, E.J. Kamsteeg, W.K. Chong, P. Gissen, M. Topf, R.C. Dale, J.R. Chubb, F.L. Raymond, M.A. Kurian, Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia, Nat Genet (2016). This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia.
    • Nat Genet
  • 98
    • 84919865470 scopus 로고    scopus 로고
    • Next generation sequencing and the future of genetic diagnosis
    • K. Lohmann, C. Klein, Next generation sequencing and the future of genetic diagnosis, Neurotherapeutics (2014).
    • (2014) Neurotherapeutics
    • Lohmann, K.1    Klein, C.2
  • 99
    • 84959235101 scopus 로고    scopus 로고
    • Genetics of movement disorders in the next-generation sequencing era
    • PID: 26899883
    • Olgiati S, Quadri M, Bonifati V. Genetics of movement disorders in the next-generation sequencing era. Mov Disord. 2016;31:458–70.
    • (2016) Mov Disord , vol.31 , pp. 458-470
    • Olgiati, S.1    Quadri, M.2    Bonifati, V.3
  • 100
    • 84940661162 scopus 로고    scopus 로고
    • The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort
    • COI: 1:CAS:528:DC%2BC2MXhs1OlsrfI, PID: 26157024
    • Mencacci NE, R’Bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, et al. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet. 2015;24:5326–9.
    • (2015) Hum Mol Genet , vol.24 , pp. 5326-5329
    • Mencacci, N.E.1    R’Bibo, L.2    Bandres-Ciga, S.3    Carecchio, M.4    Zorzi, G.5    Nardocci, N.6
  • 101
    • 84880784410 scopus 로고    scopus 로고
    • Genetics of dystonia: what’s known? what’s new? what’s next?
    • COI: 1:CAS:528:DC%2BC3sXhsVKgtrrP, PID: 23893446
    • Lohmann K, Klein C. Genetics of dystonia: what’s known? what’s new? what’s next? Mov Disord. 2013;28:899–905.
    • (2013) Mov Disord , vol.28 , pp. 899-905
    • Lohmann, K.1    Klein, C.2
  • 102
    • 84894278971 scopus 로고    scopus 로고
    • Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
    • COI: 1:CAS:528:DC%2BC2cXjt1yms7g%3D, PID: 24227479
    • Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, et al. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord. 2014;29:245–51.
    • (2014) Mov Disord , vol.29 , pp. 245-251
    • Mok, K.Y.1    Schneider, S.A.2    Trabzuni, D.3    Stamelou, M.4    Edwards, M.5    Kasperaviciute, D.6
  • 103
    • 84902162103 scopus 로고    scopus 로고
    • Genome-wide association study in musician’s dystonia: a risk variant at the arylsulfatase G locus?
    • COI: 1:CAS:528:DC%2BC2cXpslKgur0%3D, PID: 24375517
    • Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, et al. Genome-wide association study in musician’s dystonia: a risk variant at the arylsulfatase G locus? Mov Disord. 2014;29:921–7.
    • (2014) Mov Disord , vol.29 , pp. 921-927
    • Lohmann, K.1    Schmidt, A.2    Schillert, A.3    Winkler, S.4    Albanese, A.5    Baas, F.6
  • 104
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • COI: 1:CAS:528:DC%2BC38XhtVekt7jF, PID: 22805709
    • Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13:565–75.
    • (2012) Nat Rev Genet , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.