Intrafamilial variability in Machado-Joseph disease

Movement Disorders

Volumn 11, Issue 6, 1996, Pages 741-743

  Subramony, S H ^a   Currier, R D ^a  

^a UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

Machado Joseph disease; Phenotypic variability

Indexed keywords

CARBIDOPA; CARBIDOPA PLUS LEVODOPA; LEVODOPA;

ADULT; ARTICLE; CASE REPORT; EXTRAPYRAMIDAL SYNDROME; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HEREDITARY ATAXIA; HUMAN; MACHADO JOSEPH DISEASE; MALE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ANTIPARKINSON AGENTS; CARBIDOPA; DRUG COMBINATIONS; FEMALE; GENES, DOMINANT; HUMANS; LEVODOPA; MACHADO-JOSEPH DISEASE; MALE; NEUROLOGIC EXAMINATION; PHENOTYPE;

EID: 0029801150     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870110625     Document Type: Article

References (5)

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3. Subramony SH, Bock HG, Smith SC, Currier RD, Smith E. Presumed Machado-Joseph disease: four kindreds from Mississippi. In: Lechentenberg R, ed. Handbook of cerebellar disease. New York: Marcel Dekker, Inc., 1993:353-362.
4. Spadaro M, Giunti P, Lulli P, et al. HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. Acta Neurol Scand 1992;85:257-265.
5. Chong SS, McCall AE, Cota J, Subramony SH, et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type I. Nature Genet 1995;10:344-350.