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

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

Neurology

journal_title

Neurology

authors

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

doi

10.1212/wnl.46.4.1154

subject

Has Abstract

pub_date

1996-04-01 00:00:00

pages

1154-6

issue

4

eissn

0028-3878

issn

1526-632X

journal_volume

46

pub_type

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