메뉴 건너뛰기




Volumn 1, Issue 1, 2015, Pages

Phenotypic and molecular analyses of primary lateral sclerosis

(14)  Mitsumoto, Hiroshi a   Nagy, Peter L a,b   Gennings, Chris c   Murphy, Jennifer d   Andrews, Howard a   Goetz, Raymond a   Floeter, Mary Kay e   Hupf, Jonathan a   Singleton, Jessica a   Barohn, Richard J f   Nations, Sharon g   Shoesmith, Christen h   Kasarskis, Edward i   Factor Litvak, Pam j  


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; C9ORF72 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; DCTN1 GENE; DEMOGRAPHY; EXOME; FEMALE; GENE; GENE SEQUENCE; GENETIC MARKER; HUMAN; MALE; MIDDLE AGED; MULTICENTER STUDY; PARK2 GENE; PHENOTYPE; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; SECONDARY ANALYSIS; SPG7 GENE;

EID: 85046981879     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/01.NXG.0000464294.88607.dd     Document Type: Article
Times cited : (51)

References (38)
  • 1
    • 0035310865 scopus 로고    scopus 로고
    • Primary lateral sclerosis: Further clarification
    • Le Forestier N, Maisonobe T, Spelle L, et al. Primary lateral sclerosis: further clarification. J Neurol Sci 2001;185:95-100.
    • (2001) J Neurol Sci , vol.185 , pp. 95-100
    • Le Forestier, N.1    Maisonobe, T.2    Spelle, L.3
  • 2
    • 84871312207 scopus 로고    scopus 로고
    • Clinical evolution of pure upper motor neuron disease/dysfunction (PUMMD)
    • D'Amico E, Pasmantier M, Lee YW, Weimer L, Mitsumoto H. Clinical evolution of pure upper motor neuron disease/dysfunction (PUMMD). Muscle Nerve 2013;47:28-32.
    • (2013) Muscle Nerve , vol.47 , pp. 28-32
    • D'Amico, E.1    Pasmantier, M.2    Lee, Y.W.3    Weimer, L.4    Mitsumoto, H.5
  • 3
    • 67650076729 scopus 로고    scopus 로고
    • Clinical features that distinguish PLS, upper motor neuron-dominant ALS, and typical ALS
    • Gordon PH, Cheng B, Katz IB, Mitsumoto H, Rowland LP. Clinical features that distinguish PLS, upper motor neuron-dominant ALS, and typical ALS. Neurology 2009;72:1948-1952.
    • (2009) Neurology , vol.72 , pp. 1948-1952
    • Gordon, P.H.1    Cheng, B.2    Katz, I.B.3    Mitsumoto, H.4    Rowland, L.P.5
  • 4
    • 0026682621 scopus 로고
    • Primary lateral sclerosis - Clinical features, neuropathology and diagnostic criteria
    • Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC. Primary lateral sclerosis - clinical features, neuropathology and diagnostic criteria. Brain 1992;115:495-520.
    • (1992) Brain , vol.115 , pp. 495-520
    • Pringle, C.E.1    Hudson, A.J.2    Munoz, D.G.3    Kiernan, J.A.4    Brown, W.F.5    Ebers, G.C.6
  • 5
    • 33846973022 scopus 로고    scopus 로고
    • Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis-examination of symptoms and signs at disease onset and during follow-up
    • Tartaglia MC, Rowe A, Findlater K, Orange JB, Grace G, Strong MJ. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis-examination of symptoms and signs at disease onset and during follow-up. Arch Neurol 2007;64:232-236.
    • (2007) Arch Neurol , vol.64 , pp. 232-236
    • Tartaglia, M.C.1    Rowe, A.2    Findlater, K.3    Orange, J.B.4    Grace, G.5    Strong, M.J.6
  • 6
    • 0034792793 scopus 로고    scopus 로고
    • Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature
    • Le Forestier N, Maisonobe T, Piquard A, et al. Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature. Brain 2001;124:1989-1999.
    • (2001) Brain , vol.124 , pp. 1989-1999
    • Le Forestier, N.1    Maisonobe, T.2    Piquard, A.3
  • 7
    • 0037461315 scopus 로고    scopus 로고
    • Primary lateral sclerosis: A heterogeneous disorder composed of different subtypes?
    • Zhai P, Pagan F, Statland J, Butman JA, Floeter MK. Primary lateral sclerosis: a heterogeneous disorder composed of different subtypes? Neurology 2003;60:1258-1265.
    • (2003) Neurology , vol.60 , pp. 1258-1265
    • Zhai, P.1    Pagan, F.2    Statland, J.3    Butman, J.A.4    Floeter, M.K.5
  • 8
    • 84901494027 scopus 로고    scopus 로고
    • ALS multicenter cohort study of oxidative stress (ALS COSMOS): Study methodology, recruitment, and baseline demographic and disease characteristics
    • Mitsumoto H, Factor-Litvak P, Andrews H, et al. ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): study methodology, recruitment, and baseline demographic and disease characteristics. Amyotroph Lateral Scler Frontotemporal Degener 2014;15:192-203.
    • (2014) Amyotroph Lateral Scler Frontotemporal Degener , vol.15 , pp. 192-203
    • Mitsumoto, H.1    Factor-Litvak, P.2    Andrews, H.3
  • 9
    • 0038729339 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis and primary lateral sclerosis: Evidence-based diagnostic evaluation of the upper motor neuron
    • Chan S, Kaufmann P, Shungu DC, Mitsumoto H. Amyotrophic lateral sclerosis and primary lateral sclerosis: evidence-based diagnostic evaluation of the upper motor neuron. Neuroimaging Clin N Am 2003;13:307-326.
    • (2003) Neuroimaging Clin N Am , vol.13 , pp. 307-326
    • Chan, S.1    Kaufmann, P.2    Shungu, D.C.3    Mitsumoto, H.4
  • 10
    • 65249122445 scopus 로고    scopus 로고
    • Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes
    • Brugman F, Veldink JH, Franssen H, et al. Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes. Arch Neurol 2009;66:509-514.
    • (2009) Arch Neurol , vol.66 , pp. 509-514
    • Brugman, F.1    Veldink, J.H.2    Franssen, H.3
  • 13
    • 85194972808 scopus 로고    scopus 로고
    • Regression shrinkage and selection via the lasso
    • Tibshirani R. Regression shrinkage and selection via the Lasso. J Roy Stat Soc B Met 1996;58:267-288.
    • (1996) J Roy Stat Soc B Met , vol.58 , pp. 267-288
    • Tibshirani, R.1
  • 14
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 15
    • 84873979331 scopus 로고    scopus 로고
    • Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
    • Chin EL, da Silva C, Hegde M. Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. BMC Genet 2013;14:6.
    • (2013) BMC Genet , vol.14 , pp. 6
    • Chin, E.L.1    Da Silva, C.2    Hegde, M.3
  • 16
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation and human phenotype
    • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42: D980-D985.
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 17
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium, Abecasis GR, Altschuler D, et al. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altschuler, D.2
  • 18
    • 84864609288 scopus 로고    scopus 로고
    • Copy number variation detection and genotyping from exome sequence data
    • Krumm N, Sudmant PH, Ko A, et al. Copy number variation detection and genotyping from exome sequence data. Genome Res 2012;22:1525-1532.
    • (2012) Genome Res , vol.22 , pp. 1525-1532
    • Krumm, N.1    Sudmant, P.H.2    Ko, A.3
  • 19
    • 84862269439 scopus 로고    scopus 로고
    • MSV3d: Database of human MisSense variants mapped to 3D protein structure
    • Luu TD, Rusu AM, Walter V, et al. MSV3d: database of human MisSense variants mapped to 3D protein structure. Database (Oxford) 2012:bas018.
    • (2012) Database (Oxford)
    • Luu, T.D.1    Rusu, A.M.2    Walter, V.3
  • 20
    • 84867301515 scopus 로고    scopus 로고
    • Predicting the functional effect of amino acid substitutions and indels
    • Choi Y, Sims GE, Murphy S, Miller JR, Chan A. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012;7:e46688.
    • (2012) PLoS One , vol.7
    • Choi, Y.1    Sims, G.E.2    Murphy, S.3    Miller, J.R.4    Chan, A.5
  • 21
    • 84891424537 scopus 로고    scopus 로고
    • The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
    • Roxburgh RH, Marquis-Nicholson R, Ashton F, et al. The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. J Neurol 2013;260:1286-1294.
    • (2013) J Neurol , vol.260 , pp. 1286-1294
    • Roxburgh, R.H.1    Marquis-Nicholson, R.2    Ashton, F.3
  • 23
    • 4143084861 scopus 로고    scopus 로고
    • Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
    • Münch C, Sedlmeier R, Meyer T, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004;63:724-726.
    • (2004) Neurology , vol.63 , pp. 724-726
    • Münch, C.1    Sedlmeier, R.2    Meyer, T.3
  • 24
    • 35748935532 scopus 로고    scopus 로고
    • Nesprin-1 and -2 are involved in the pathogenesis of emery dreifuss muscular dystrophy and are critical for nuclear envelope integrity
    • Zhang QP, Bethmann C, Worth NF, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007;16:2816-2833.
    • (2007) Hum Mol Genet , vol.16 , pp. 2816-2833
    • Zhang, Q.P.1    Bethmann, C.2    Worth, N.F.3
  • 25
    • 16244401458 scopus 로고    scopus 로고
    • Regularization and variable selection via the elastic net
    • Zou H, Hastie T. Regularization and variable selection via the elastic net. J Roy Stat Soc B 2005;67:301-320.
    • (2005) J Roy Stat Soc B , vol.67 , pp. 301-320
    • Zou, H.1    Hastie, T.2
  • 26
    • 84867734912 scopus 로고    scopus 로고
    • Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
    • Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012;135:2980-2993.
    • (2012) Brain , vol.135 , pp. 2980-2993
    • Klebe, S.1    Depienne, C.2    Gerber, S.3
  • 27
    • 84872993805 scopus 로고    scopus 로고
    • SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
    • Sanchez-Ferrero E, Coto E, Beetz C, et al. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. Clin Genet 2013;83:257-262.
    • (2013) Clin Genet , vol.83 , pp. 257-262
    • Sanchez-Ferrero, E.1    Coto, E.2    Beetz, C.3
  • 28
    • 84865068311 scopus 로고    scopus 로고
    • Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
    • van Rheenen W, van Blitterswijk M, Huisman MH, et al. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012;79:878-882.
    • (2012) Neurology , vol.79 , pp. 878-882
    • Van Rheenen, W.1    Van Blitterswijk, M.2    Huisman, M.H.3
  • 29
    • 84896699287 scopus 로고    scopus 로고
    • The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
    • Cooper-Knock J, Shaw PJ, Kirby J. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol 2014;127:333-345.
    • (2014) Acta Neuropathol , vol.127 , pp. 333-345
    • Cooper-Knock, J.1    Shaw, P.J.2    Kirby, J.3
  • 30
    • 77956801164 scopus 로고    scopus 로고
    • Parkinsonism and motor neuron diseases: Twenty-seven patients with diverse overlap syndromes
    • Gilbert RM, Fahn S, Mitsumoto H, Rowland LP. Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes. Mov Disord 2010;25:1868-1875.
    • (2010) Mov Disord , vol.25 , pp. 1868-1875
    • Gilbert, R.M.1    Fahn, S.2    Mitsumoto, H.3    Rowland, L.P.4
  • 32
    • 33745091901 scopus 로고    scopus 로고
    • Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease: The GenePD study
    • Sun M, Latourelle JC, Wooten GF, et al. Influence of heterozygosity for Parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006;63:826-832.
    • (2006) Arch Neurol , vol.63 , pp. 826-832
    • Sun, M.1    Latourelle, J.C.2    Wooten, G.F.3
  • 33
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and Parkinsonism in families with Parkin mutations
    • Farrer M, Chan P, Chen R, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001;50:293-300.
    • (2001) Ann Neurol , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 35
    • 33847700524 scopus 로고    scopus 로고
    • R1514Q substitution in lrrk2 is not a pathogenic Parkinson's disease mutation
    • Nichols WC, Marek DK, Pauciulo MW, et al. R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation. Mov Disord 2007;22:254-257.
    • (2007) Mov Disord , vol.22 , pp. 254-257
    • Nichols, W.C.1    Marek, D.K.2    Pauciulo, M.W.3
  • 36
    • 84889602366 scopus 로고    scopus 로고
    • Identification of three novel LRRK2 mutations associated with Parkinson's disease in a calabrian population
    • Anfossi M, Colao R, Gallo M, et al. Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population. J Alzheimers Dis 2014;38:351-357.
    • (2014) J Alzheimers Dis , vol.38 , pp. 351-357
    • Anfossi, M.1    Colao, R.2    Gallo, M.3
  • 37
    • 33847277869 scopus 로고    scopus 로고
    • Pathogenic lrrk2 substitutions and amyotrophic lateral sclerosis
    • Whittle AJ, Ross OA, Naini A, et al. Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis. J Neural Transm 2007;114:327-329.
    • (2007) J Neural Transm , vol.114 , pp. 327-329
    • Whittle, A.J.1    Ross, O.A.2    Naini, A.3
  • 38
    • 67649470543 scopus 로고    scopus 로고
    • Characterization of DCTN1 genetic variability in neurodegeneration
    • Vilarino-Guell C, Wider C, Soto-Ortolaza AI, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology 2009;72:2024-2028.
    • (2009) Neurology , vol.72 , pp. 2024-2028
    • Vilarino-Guell, C.1    Wider, C.2    Soto-Ortolaza, A.I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.