A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy

Neurology

Volumn 46, Issue 4, 1996, Pages 1154-1156

  Sakai, T ^a,c   Antoku, Y ^a   Kawakami, H ^b   Maruyama, H ^b   Nakamura, S ^b   Tanaka, K ^a  

^a National Chikugo Hospital   (Japan)

^b HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^c National Chikugo Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA POLYMERASE; REPETITIVE DNA;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DNA DETERMINATION; FEMALE; GENETIC ANALYSIS; HUMAN; MACHADO JOSEPH DISEASE; NEUROPATHOLOGY; PRIORITY JOURNAL;

EID: 0029981268     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.4.1154     Document Type: Article

References (10)

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2. Rosenberg RN. Joseph disease: an autosomal dominant motor system degeneration. In: de Jong J, ed. Handbook of clinical neurology, revised series. Hereditary neuropathies and spinocerebellar atrophies. vol. 16(60). New York: Elsevier, 1991: 467-479.
3. Sakai T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983;33:74-80.
4. Goto I, Tobimatsu S, Ohta M, Hosokawa S, Shibasaki H, Kuroiwa Y. Dentatorubro-pallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form. Neurology 1982;32:1395-1399.
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9. 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.
10. Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:1-5.