A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.

@article{Takiyama1994ACA,
  title={A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.},
  author={Yoshihisa Takiyama and Shinsaku Oyanagi and Shingo Kawashima and Hitoshi Sakamoto and Kozue Saito and Mari Yoshida and Shoji Tsuji and Yoshikuni Mizuno and Masatoyo Nishizawa},
  journal={Neurology},
  year={1994},
  volume={44 7},
  pages={
          1302-8
        }
}
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… CONTINUE READING
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