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NEUROLOGY 1996;46:1154-1156
© 1996 American Academy of Neurology

A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy

T. Sakai, MD, Y. Antoku, MD, H. Kawakami, MD, H. Maruyama, MD, S. Nakamura, MD and K. Tanaka, MD

From the Department of Neurology (Drs. Sakai, Antoku, and Tanaka), National Chikugo Hospital, Fukuoka; and the Third Department of Internal Medicine (Drs. Kawakami, Maruyama, and Nakamura), Hiroshima University School of Medicine, Hiroshima, Japan.
Received February 25, 1995. Accepted in final form September 14, 1995.
Address correspondence and reprint requests to Dr. Tetsuo Sakai, Department of Neurology. National Chikugo Hospital, 515 Kurakazu, Chikugo City, Fukuoka Prefecture, 833, Japan.

We report a family with Machado-Joseph disease (MJD) that was previously diagnosed with dentatorubral-pallidoluysian atrophy (DRPLA), on the basis of the neuropathologic findings. Because the clinical and pathologic reevaluation strongly suggested a diagnosis of MJD, we conducted a genetic study in the family. Two patients, aged 38 and 40, revealed CAG repeat lengths of the MJD1 gene of 80, 28 and 75, 14, confirming a final diagnosis of MJD.

NEUROLOGY 1996;46: 1154-1156




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Improvement in the Molecular Diagnosis of Machado-Joseph Disease
Arch Neurol, November 1, 2001; 58(11): 1821 - 1827.
[Abstract] [Full Text] [PDF]


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