Y Takiyama, S Oyanagi, S Kawashima, H Sakamoto, K Saito, M Yoshida, S Tsuji, Y Mizuno, M Nishizawa
The gene locus for Machado-Joseph disease (MJD) has been mapped to chromosome 14q by linkage analysis, mainly using a single large Japanese family. We studied the clinical and neuropathologic findings of this family with MJD, comparing them with those of spinocerebellar ataxia 1 (SCA1) and spinocerebellar ataxia 2 (SCA2) families. The pedigree included 30 affected persons in 125 members of five generations. Neurologic examination of 21 patients revealed that dystonia, difficulty in eyelid opening, slowness of movements, bulging eyes, and facial-lingual fasciculation-like movements or myokymia are characteristic of this MJD family, although these three autosomal dominant spinocerebellar degenerations have several neurologic signs and symptoms in common...
July 1994: Neurology