Machado-Joseph disease in a Sicilian-American family.
Machado-Joseph disease (MJD) is an autosomal dominant motor system degeneration which was originally described in Portuguese-American families. Large pedigrees have been found on the east and west coasts of the United States in which 4 main syndromes are described. Type I disease presents with pyramidal and extrapyramidal findings usually in individuals in the second or third decades of life. Type II disease, which is the most common form of presentation, includes true cerebellar deficits associated with other motor features. Type III is late-onset in the fifth through the seventh decades of life presenting with pancerebellar deficits with motor and sensory polyneuropathy. A rare presentation is Type IV with parkinsonian features with mild cerebellar deficits and a distal motor sensory neuropathy or amyotrophy. A family is described here with typical MJD who are of Italian origin. It thus indicates a wider distribution of this gene which now clearly has entered a second Italian-American family.
D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D012802:Sicily / Q000208:ethnology; D014481:United States