title: A large Japanese family with Machado-Joseph disease: clinical and genetic analysis.
abstract: We report clinical and genetic studies on a large Japanese family with Machado-Joseph disease (MJD), in which various different clinical phenotypes were seen in the same family, i.e., cerebellar ataxia type, severe amyotrophy type, and young-onset parkinsonism type. In addition, patients with very mild symptoms (formes frustes) were encountered. The expansion of the CAG repeat at the MJD locus ranged from 64 to 71 in 7 affected and 4 presymptomatic individuals. In our family, no clear inverse correlation was noted between the length of CAG-expansion and the age of onset, or the clinical phenotypes. Hyporeflexia was a common manifestation seen in 5 patients. It has been reported that the presence of peripheral neuropathy in MJD is associated with smaller increase in the CAG repeats; findings in our family conform with this observation.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yoritaka
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagawa-Hattori
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: A
authors.initials: A
authors.lastname: Kitahara
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D000293:Adolescent; D000368:Aged; D001284:Atrophy / Q000473:pathology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007564:Japan; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal