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Volumn 19, Issue 7, 2014, Pages 985-989

Genetics of Huntington's disease and related disorders

Author keywords

[No Author keywords available]

Indexed keywords

CHOREIN; KELL PROTEIN; MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; PROTEIN; UNCLASSIFIED DRUG;

EID: 84903792591     PISSN: 13596446     EISSN: 18785832     Source Type: Journal    
DOI: 10.1016/j.drudis.2014.03.005     Document Type: Review
Times cited : (13)

References (44)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 1993 971 983
    • (1993) Cell , vol.72 , pp. 971-983
  • 2
    • 84876675051 scopus 로고    scopus 로고
    • EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
    • M. Losekoot et al. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease Eur. J. Hum. Genet. 21 2013 480 486
    • (2013) Eur. J. Hum. Genet. , vol.21 , pp. 480-486
    • Losekoot, M.1
  • 3
    • 14544284039 scopus 로고    scopus 로고
    • Incidence and mutation rates of Huntington's disease in Spain: Experience of 9 years of direct genetic testing
    • DOI 10.1136/jnnp.2004.036806
    • M. Ramos-Arroyo et al. Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing J. Neurol. Neurosurg. Psychiatry 76 2005 337 342 (Pubitemid 40299120)
    • (2005) Journal of Neurology, Neurosurgery and Psychiatry , vol.76 , Issue.3 , pp. 337-342
    • Ramos-Arroyo, M.A.1    Moreno, S.2    Valiente, A.3
  • 4
    • 83255194123 scopus 로고    scopus 로고
    • Discrepancies in reporting the CAG repeat lengths for Huntington's disease
    • O.W. Quarrell et al. Discrepancies in reporting the CAG repeat lengths for Huntington's disease Eur. J. Hum. Genet. 20 2012 20 26
    • (2012) Eur. J. Hum. Genet. , vol.20 , pp. 20-26
    • Quarrell, O.W.1
  • 5
    • 66749103174 scopus 로고    scopus 로고
    • EFNS guidelines on the molecular diagnosis of neurogenetic disorders: General issues, Huntington's disease, Parkinson's disease and dystonias
    • H.F. Harbo et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias Eur. J. Neurol. 16 2009 777 785
    • (2009) Eur. J. Neurol. , vol.16 , pp. 777-785
    • Harbo, H.F.1
  • 6
    • 0033358526 scopus 로고    scopus 로고
    • A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease
    • DOI 10.1086/302374
    • E.W. Almqvist et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease Am. J. Hum. Genet. 64 1999 1293 1304 (Pubitemid 30468747)
    • (1999) American Journal of Human Genetics , vol.64 , Issue.5 , pp. 1293-1304
    • Almqvist, E.W.1    Bloch, M.2    Brinkman, R.3    Craufurd, D.4    Hayden, M.R.5
  • 8
    • 0033865906 scopus 로고    scopus 로고
    • Ten years of presymptomatic testing for Huntington's disease: The experience of the UK Huntington's Disease Prediction Consortium
    • P.S. Harper et al. Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium J. Med. Genet. 37 2000 567 571 (Pubitemid 30604092)
    • (2000) Journal of Medical Genetics , vol.37 , Issue.8 , pp. 567-571
    • Harper, P.S.1    Lim, C.2    Craufurd, D.3
  • 9
    • 84884594132 scopus 로고    scopus 로고
    • Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records
    • S.J. Evans et al. Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records J. Neurol. Psychiatry Neurosurg. 84 2013 1156 1160
    • (2013) J. Neurol. Psychiatry Neurosurg. , vol.84 , pp. 1156-1160
    • Evans, S.J.1
  • 10
    • 84874018778 scopus 로고    scopus 로고
    • Recommendations for the predictive genetic test in Huntington's disease
    • R. Macleod et al. Recommendations for the predictive genetic test in Huntington's disease Clin. Genet. 83 2013 221 231
    • (2013) Clin. Genet. , vol.83 , pp. 221-231
    • Macleod, R.1
  • 11
    • 84874451388 scopus 로고    scopus 로고
    • Recent advances in the management of choreas
    • J.-M. Burgunder Recent advances in the management of choreas Ther. Adv. Neurol. Disord. 6 2013 117 127
    • (2013) Ther. Adv. Neurol. Disord. , vol.6 , pp. 117-127
    • Burgunder, J.-M.1
  • 12
    • 79953328501 scopus 로고    scopus 로고
    • Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume
    • G. Nicolas et al. Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume Am. J. Med. Genet. A 155 2011 815 818
    • (2011) Am. J. Med. Genet. A , vol.155 , pp. 815-818
    • Nicolas, G.1
  • 13
    • 84876267263 scopus 로고    scopus 로고
    • The challenge of juvenile Huntington disease: To test or not to test
    • G. Koutsis et al. The challenge of juvenile Huntington disease: to test or not to test Neurology 80 2013 990 996
    • (2013) Neurology , vol.80 , pp. 990-996
    • Koutsis, G.1
  • 14
    • 58149161719 scopus 로고    scopus 로고
    • Late onset Huntington disease: Clinical and genetic characteristics of 34 cases
    • H. Lipe, and T. Bird Late onset Huntington disease: clinical and genetic characteristics of 34 cases J. Neurol. Sci. 276 2009 159 162
    • (2009) J. Neurol. Sci. , vol.276 , pp. 159-162
    • Lipe, H.1    Bird, T.2
  • 15
    • 84879486035 scopus 로고    scopus 로고
    • Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS
    • A. Killoran et al. Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS Neurology 80 2013 2022 2027
    • (2013) Neurology , vol.80 , pp. 2022-2027
    • Killoran, A.1
  • 16
    • 84858074593 scopus 로고    scopus 로고
    • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
    • J.M. Lee et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion Neurology 78 2012 690 695
    • (2012) Neurology , vol.78 , pp. 690-695
    • Lee, J.M.1
  • 17
    • 83655191480 scopus 로고    scopus 로고
    • Genetic modifiers of Huntington's disease
    • L. Arning, and J.T. Epplen Genetic modifiers of Huntington's disease Future Neurol. 7 2012 93 109
    • (2012) Future Neurol. , vol.7 , pp. 93-109
    • Arning, L.1    Epplen, J.T.2
  • 18
    • 84888063832 scopus 로고    scopus 로고
    • Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset
    • E.M. Ramos et al. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset Neurogenetics 14 2013 173 179
    • (2013) Neurogenetics , vol.14 , pp. 173-179
    • Ramos, E.M.1
  • 19
    • 0041385579 scopus 로고    scopus 로고
    • A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study
    • J.L. Li et al. A genome scan for modifiers of age at onset in Huntington disease: the HD MAPS study Am. J. Hum. Genet. 73 2003 682 687
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 682-687
    • Li, J.L.1
  • 20
    • 33749416817 scopus 로고    scopus 로고
    • Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: The HD MAPS study
    • J.L. Li et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study BMC Med. Genet. 7 2006 71
    • (2006) BMC Med. Genet. , vol.7 , pp. 71
    • Li, J.L.1
  • 21
    • 48949118889 scopus 로고    scopus 로고
    • Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds
    • J. Gayan et al. Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds Genet. Epidemiol. 32 2008 445 453
    • (2008) Genet. Epidemiol. , vol.32 , pp. 445-453
    • Gayan, J.1
  • 22
    • 79551554590 scopus 로고    scopus 로고
    • The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease
    • I. Munoz-Sanjuan, and G.P. Bates The importance of integrating basic and clinical research toward the development of new therapies for Huntington disease J. Clin. Invest. 121 2011 476 483
    • (2011) J. Clin. Invest. , vol.121 , pp. 476-483
    • Munoz-Sanjuan, I.1    Bates, G.P.2
  • 25
    • 84855843599 scopus 로고
    • University of Washington Seattle, WA [Internet]
    • R. Pagon et al. GeneReviews 1993 University of Washington Seattle, WA [Internet]
    • (1993) GeneReviews
    • Pagon, R.1
  • 26
    • 80054869516 scopus 로고    scopus 로고
    • Neuroacanthocytosis syndromes
    • H.H. Jung et al. Neuroacanthocytosis syndromes Orphanet. J. Rare Dis. 6 2011 68
    • (2011) Orphanet. J. Rare Dis. , vol.6 , pp. 68
    • Jung, H.H.1
  • 28
    • 38149058226 scopus 로고    scopus 로고
    • Benign hereditary chorea: Clinical, neuroimaging, and genetic findings
    • M. Mahajnah et al. Benign hereditary chorea: clinical, neuroimaging, and genetic findings J. Child Neurol. 22 2007 1231 1234
    • (2007) J. Child Neurol. , vol.22 , pp. 1231-1234
    • Mahajnah, M.1
  • 30
    • 0033775093 scopus 로고    scopus 로고
    • A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
    • E.M. Valente et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 Brain 123 2000 2040 2045
    • (2000) Brain , vol.123 , pp. 2040-2045
    • Valente, E.M.1
  • 31
    • 77952481778 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic choreoathetosis: Evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families
    • X. Wang et al. Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families Eur. J. Neurol. 17 2010 800 807
    • (2010) Eur. J. Neurol. , vol.17 , pp. 800-807
    • Wang, X.1
  • 32
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • W.J. Chen et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat. Genet. 43 2011 1252 1255
    • (2011) Nat. Genet. , vol.43 , pp. 1252-1255
    • Chen, W.J.1
  • 33
    • 83755205987 scopus 로고    scopus 로고
    • Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    • J.L. Wang et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias Brain 134 2011 3493 3501
    • (2011) Brain , vol.134 , pp. 3493-3501
    • Wang, J.L.1
  • 35
    • 84903758295 scopus 로고    scopus 로고
    • Update on the non-Huntington's disease choreas with comments on the current nomenclature
    • pii: tre-02-49-211-1
    • R.H. Walker Update on the non-Huntington's disease choreas with comments on the current nomenclature Tremor Other Hyperkinet. Mov. (N. Y.) 2 2012 pii: tre-02-49-211-1
    • (2012) Tremor Other Hyperkinet. Mov. (N. Y.) , vol.2
    • Walker, R.H.1
  • 36
    • 44449161332 scopus 로고    scopus 로고
    • Huntington's disease phenocopies are clinically and genetically heterogeneous
    • E.J. Wild et al. Huntington's disease phenocopies are clinically and genetically heterogeneous Mov. Disord. 23 2008 716 720
    • (2008) Mov. Disord. , vol.23 , pp. 716-720
    • Wild, E.J.1
  • 38
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • D.H. Geschwind et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia Am. J. Hum. Genet. 60 1997 842 850 (Pubitemid 27146492)
    • (1997) American Journal of Human Genetics , vol.60 , Issue.4 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 39
    • 84867328366 scopus 로고    scopus 로고
    • Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion
    • G. Koutsis et al. Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion J. Neurol. 259 2012 1874 1878
    • (2012) J. Neurol. , vol.259 , pp. 1874-1878
    • Koutsis, G.1
  • 41
    • 79960332244 scopus 로고    scopus 로고
    • Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations
    • M. Panas et al. Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations Neurologist 17 2011 211 212
    • (2011) Neurologist , vol.17 , pp. 211-212
    • Panas, M.1
  • 42
    • 84870956362 scopus 로고    scopus 로고
    • The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease
    • R.H. Roxburgh et al. The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease J. Neurol. Sci. 324 2013 176 178
    • (2013) J. Neurol. Sci. , vol.324 , pp. 176-178
    • Roxburgh, R.H.1
  • 44
    • 84860839465 scopus 로고    scopus 로고
    • Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants
    • R.J. Torres et al. Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants Curr. Rheumatol. Rep. 14 2012 189 194
    • (2012) Curr. Rheumatol. Rep. , vol.14 , pp. 189-194
    • Torres, R.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.