Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
Sakai T,Antoku Y,Kawakami H,Maruyama H,Nakamura S,Tanaka Kdoi
10.1212/wnl.46.4.1154subject
Has Abstractpub_date
1996-04-01 00:00:00pages
1154-6issue
4eissn
0028-3878issn
1526-632Xjournal_volume
46pub_type
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