메뉴 건너뛰기




Volumn 49, Issue 2, 1997, Pages 568-572

Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; DIFFERENTIAL DIAGNOSIS; FACIAL NERVE PARALYSIS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; MUSCLE ATROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0030798569     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.2.568     Document Type: Article
Times cited : (106)

References (25)
  • 1
    • 0028918944 scopus 로고
    • Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    • Pramatrova A, Figlewicz DA, Krizus A, et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995;56:592-596.
    • (1995) Am J Hum Genet , vol.56 , pp. 592-596
    • Pramatrova, A.1    Figlewicz, D.A.2    Krizus, A.3
  • 2
    • 0028916910 scopus 로고
    • Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
    • Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Gen 1995;32:290-292.
    • (1995) J Med Gen , vol.32 , pp. 290-292
    • Jones, C.T.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.H.4
  • 3
  • 4
    • 0028952350 scopus 로고
    • Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders
    • Ferlini A, Patrosso MC, Guidetti D, et al. Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motor neuron disorders. Am J Med Genet 1995;55:105-111.
    • (1995) Am J Med Genet , vol.55 , pp. 105-111
    • Ferlini, A.1    Patrosso, M.C.2    Guidetti, D.3
  • 5
    • 0026653404 scopus 로고
    • Criteria for diagnosis of familial amyotrophic lateral sclerosis
    • Swash M, Leigh N. Criteria for diagnosis of familial amyotrophic lateral sclerosis. Neuromuscul Disord 1992;2:7-9.
    • (1992) Neuromuscul Disord , vol.2 , pp. 7-9
    • Swash, M.1    Leigh, N.2
  • 6
    • 0027202177 scopus 로고
    • Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis
    • Garofalo O, Figlewicz DA, Leigh PN, et al. Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuromuscul Disord 1993;3:195-199.
    • (1993) Neuromuscul Disord , vol.3 , pp. 195-199
    • Garofalo, O.1    Figlewicz, D.A.2    Leigh, P.N.3
  • 8
    • 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. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 9
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 10
    • 0026621091 scopus 로고
    • Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy
    • Igarashi S, Tanno Y, Onodera O, et al. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992;42:2300-2302.
    • (1992) Neurology , vol.42 , pp. 2300-2302
    • Igarashi, S.1    Tanno, Y.2    Onodera, O.3
  • 11
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 1992;2:301-304.
    • (1992) Nat Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3
  • 12
    • 0027745692 scopus 로고
    • Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
    • Zühlke G, Riess O, Bockel B, Lange H, Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet 1993;2:2063-2067.
    • (1993) Hum Mol Genet , vol.2 , pp. 2063-2067
    • Zühlke, G.1    Riess, O.2    Bockel, B.3    Lange, H.4    Thies, U.5
  • 13
    • 0029047109 scopus 로고
    • Correlation between CAG repeat length and clinical features in Machado-Joseph's disease
    • Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph's disease. Am J Hum Genet 1995;57:54-61.
    • (1995) Am J Hum Genet , vol.57 , pp. 54-61
    • Maciel, P.1    Gaspar, C.2    DeStefano, A.L.3
  • 15
    • 0025735846 scopus 로고
    • Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy
    • Olney RK, Aminoff MJ, So YT. Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neurology 1991;41:823-828.
    • (1991) Neurology , vol.41 , pp. 823-828
    • Olney, R.K.1    Aminoff, M.J.2    So, Y.T.3
  • 16
    • 0027240431 scopus 로고
    • Trinucleotide repeat length instability and age of onset in Huntington's disease
    • Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993;4:387-392.
    • (1993) Nat Genet , vol.4 , pp. 387-392
    • Duyao, M.1    Ambrose, C.2    Myers, R.3
  • 17
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 18
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.-Y.2    Banfi, S.3
  • 19
    • 0026456689 scopus 로고
    • Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
    • Doyu M, Sobue G, Mukai E, et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 1992;32:707-710.
    • (1992) Ann Neurol , vol.32 , pp. 707-710
    • Doyu, M.1    Sobue, G.2    Mukai, E.3
  • 20
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu Y-H, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.-H.1    Kuhl, D.P.A.2    Pizzuti, A.3
  • 21
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 37′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 37′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 23
    • 0027366138 scopus 로고
    • Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
    • Mhatre AN, Trifiro MA, Kaufman M, et al. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 1993;5:184-188.
    • (1993) Nat Genet , vol.5 , pp. 184-188
    • Mhatre, A.N.1    Trifiro, M.A.2    Kaufman, M.3
  • 24
    • 0028033594 scopus 로고
    • The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
    • Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 1994;22:3181-3186.
    • (1994) Nucleic Acids Res , vol.22 , pp. 3181-3186
    • Chamberlain, N.L.1    Driver, E.D.2    Miesfeld, R.L.3
  • 25
    • 0028843242 scopus 로고
    • Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy)
    • MacLean HE, Choi W-T, Rekaris G, Warne GL, Zajac JD. Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab 1995;80:508-516.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 508-516
    • MacLean, H.E.1    Choi, W.-T.2    Rekaris, G.3    Warne, G.L.4    Zajac, J.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.