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Volumn 50, Issue 8, 1993, Pages 803-806

Late-Onset Friedreich's Ataxia: Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 9; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; ELECTRONYSTAGMOGRAPHY; FEMALE; FRIEDREICH ATAXIA; GENETIC LINKAGE; GENOTYPE; HUMAN; MOLECULAR GENETICS; NERVE CONDUCTION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL;

EID: 0027250194     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.1993.00540080014006     Document Type: Article
Times cited : (72)

References (23)
  • 1
    • 34447609375 scopus 로고
    • Ueber degenerative Atrophie der spinalen Hinterstränge
    • Friedreich N. Ueber degenerative Atrophie der spinalen Hinterstränge. Arch Pathol Anat Physiol Klin Med. 1863;26:391-419.
    • (1863) Arch Pathol Anat Physiol Klin Med , vol.26 , pp. 391-419
    • Friedreich, N.1
  • 2
    • 0017056474 scopus 로고
    • Clinical description and roentgenological evaluation of patients with Friedreich's ataxia
    • Geoffroy G, Barbeau A, Breton C, et al. Clinical description and roentgenological evaluation of patients with Friedreich's ataxia. Can J Neurol Sci. 1976;3:279-286.
    • (1976) Can J Neurol Sci , vol.3 , pp. 279-286
    • Geoffroy, G.1    Barbeau, A.2    Breton, C.3
  • 3
    • 0019782799 scopus 로고
    • Friedreich's ataxia: a clinical and genetic study of 90 families with analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104:589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 4
    • 84942386563 scopus 로고
    • A case of Friedreich's disease with onset late in life
    • Potts WJ. A case of Friedreich's disease with onset late in life. Brain. 1906;29:405-406.
    • (1906) Brain , vol.29 , pp. 405-406
    • Potts, W.J.1
  • 5
    • 0024810893 scopus 로고
    • Late-onset recessive ataxia with Friedreich's disease phenotype
    • De Michele G, Filla A, Barbieri F, et al. Late-onset recessive ataxia with Friedreich's disease phenotype. J Neurol Neurosurg Psychiatry. 1989;52: 1398-1401.
    • (1989) J Neurol Neurosurg Psychiatry , vol.52 , pp. 1398-1401
    • De Michele, G.1    Filla, A.2    Barbieri, F.3
  • 6
    • 0023751357 scopus 로고
    • Mapping of mutation causing Friedreich's ataxia to chromosome 9
    • Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to chromosome 9. Nature. 1988;334:248-250.
    • (1988) Nature , vol.334 , pp. 248-250
    • Chamberlain, S.1    Shaw, J.2    Rowland, A.3
  • 7
    • 0024580326 scopus 로고
    • Genetic homogeneity at the Friedreich ataxia locus on chromosome 9
    • Chamberlain S, Shaw J, Wallis J, etal. Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet. 1989;44:518-521.
    • (1989) Am J Hum Genet , vol.44 , pp. 518-521
    • Chamberlain, S.1    Shaw, J.2    Wallis, J.3
  • 8
    • 0014379575 scopus 로고
    • The peripheral sensory pathway in Friedreich's ataxia
    • Hughes JT, Brownell B, Hewer RL. The peripheral sensory pathway in Friedreich's ataxia. Brain. 1968;91:803-818.
    • (1968) Brain , vol.91 , pp. 803-818
    • Hughes, J.T.1    Brownell, B.2    Hewer, R.L.3
  • 12
    • 0023757328 scopus 로고
    • Reversible brain shrinkage in abstinent alcoholics measured by MRI
    • Schroth G, Nägele T, Klose U, et al. Reversible brain shrinkage in abstinent alcoholics measured by MRI. Neuroradiology. 1990;30:385-389.
    • (1990) NeuroRadiology , vol.30 , pp. 385-389
    • Schroth, G.1    Nägele, T.2    Klose, U.3
  • 14
    • 85047671955 scopus 로고
    • Isolation and mapping of a polymorphic DNA sequence pMCT112 on chromosome 9q (D9S15)
    • Carlson M, Nakamura Y, Krapcho K, et al. Isolation and mapping of a polymorphic DNA sequence pMCT112 on chromosome 9q (D9S15). Nucl Acids Res. 1987;15:10614.
    • (1987) Nucl Acids Res , vol.15 , pp. 10614
    • Carlson, M.1    Nakamura, Y.2    Krapcho, K.3
  • 15
    • 0025293773 scopus 로고
    • Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia
    • Wallis J, Williamson R, Chamberlain S. Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia. Hum Genet. 1990;85:98-100.
    • (1990) Hum Genet , vol.85 , pp. 98-100
    • Wallis, J.1    Williamson, R.2    Chamberlain, S.3
  • 17
    • 0025248835 scopus 로고
    • Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich's ataxia
    • Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich's ataxia. Proc Natl Acad Sci U S A. 1990;87:1796-1800.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 1796-1800
    • Fujita, R.1    Hanauer, A.2    Sirugo, G.3    Heilig, R.4    Mandel, J.L.5
  • 18
    • 0026030291 scopus 로고
    • Identification of CpG islands in physical map encompassing the Friedreich's ataxia locus
    • Wilkes D, Shaw J, Anand R, et al. Identification of CpG islands in physical map encompassing the Friedreich's ataxia locus. Genomics. 1991; 9:90-95.
    • (1991) Genomics , vol.9 , pp. 90-95
    • Wilkes, D.1    Shaw, J.2    Anand, R.3
  • 19
    • 0024844762 scopus 로고
    • Prenatal diagnosis for Friedreich's ataxia
    • Wallis J, Shaw J, Wilkes D, et al. Prenatal diagnosis for Friedreich's ataxia. Am J Med Genet. 1989;34:458-461.
    • (1989) Am J Med Genet , vol.34 , pp. 458-461
    • Wallis, J.1    Shaw, J.2    Wilkes, D.3
  • 20
    • 0025267843 scopus 로고
    • Prenatal diagnosis of Friedreich's ataxia
    • Hanauer A, Fujita R, Trouillas P, et al. Prenatal diagnosis of Friedreich's ataxia. Lancet. 1990;1:1102.
    • (1990) Lancet , vol.1 , pp. 1102
    • Hanauer, A.1    Fujita, R.2    Trouillas, P.3
  • 21
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985;37:482-498.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 22
    • 0021067564 scopus 로고
    • The heart disease of Friedreich's ataxia: a clinical and electrocardiographic analysis of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases
    • Harding AE, Hewer RL. The heart disease of Friedreich's ataxia: a clinical and electrocardiographic analysis of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med. 1983;208:489-502.
    • (1983) Q J Med , vol.208 , pp. 489-502
    • Harding, A.E.1    Hewer, R.L.2
  • 23
    • 0022478421 scopus 로고
    • Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations
    • Alboliras ET, Shub C, Gomez MR, et al. Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol. 1986;58:518-524.
    • (1986) Am J Cardiol , vol.58 , pp. 518-524
    • Alboliras, E.T.1    Shub, C.2    Gomez, M.R.3


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