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NEUROLOGY 1994;44:1302
© 1994 American Academy of Neurology

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

Y. Takiyama, MD, S. Oyanagi, MD, S. Kawashima, MD, H. Sakamoto, MD, K. Saito, MD, M. Yoshida, MD, S. Tsuji, MD, Y. Mizuno, MD and M. Nishizawa, MD

Departments of Neurology (Drs. Takiyama, Kawashima, Sakamoto, Yoshida, and Nishizawa) and Pathology (Dr. Saito), Jichi Medical School, Tochigi; the Division of Ultrastructural Research (Dr. Oyanagi), Psychiatric Research Institute of Tokyo, Tokyo; the Department of Neurology (Dr. Tsuji), Brain Research Institute, Niigata; and the Department of Neurology (Dr. Mizuno), Juntendo University School of Medicine, Tokyo, Japan.

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. In contrast with SCA1 and SCA2, degeneration of the subthalamopallidal system and relative sparing of the olivocerebellar system were the main neuropathologic features of MJD.

Address correspondence and reprint requests to Dr. Masatoyo Nishizawa, Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi 329-04, Japan.

Supported in part by a Grant-in-Aid for Scientific Research on Priority Areas, from the Ministry of Education, Science and Culture, Japan, and a grant from the Research Committee for Ataxic Diseases, the Ministry of Health and Welfare, Japan.

Received August 23, 1993. Accepted in final form January 21, 1994.




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