Machado-Joseph disease: Cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

Neurology

Volumn 49, Issue 2, 1997, Pages 604-606

  Takiyama, Yoshihisa ^a   Sakoe, Kumi ^a   Nakano, Imaharu ^a   Nishizawa, Masatoyo ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ADULT; ARTICLE; AUTONOMIC DYSFUNCTION; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL FEATURE; HUMAN; HUMAN CELL; MACHADO JOSEPH DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PONS; PRIORITY JOURNAL; TEGMENTUM; TRINUCLEOTIDE REPEAT;

EID: 0030766077     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.2.604     Document Type: Article

References (10)

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2. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993;4:300-304.
3. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-227.
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7. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding AE, Deufel T, eds. Advances in neurology. Vol. 61. New York: Raven Press, 1993:139-153.
8. Tuite PJ, Rogaeva EA, St. George-Hyslop PH, Lange AE. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 1995;38:684-687.
9. Sakai T, Kawakami H. Machado-Joseph disease: a proposal of spastic paraplegic subtype. Neurology 1996;46:846-847.
10. Ishikawa K, Mizusawa H, Igarashi S, et al. Pure cerebellar ataxia phenotype in Machado-Joseph disease. Neurology 1996;46:1776-1777.