A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy.
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.
Sakai
T
T
Department of Neurology, National Chikugo Hospital, Fukuoka, Japan.
Antoku
Y
Y
Kawakami
H
H
Maruyama
H
H
Nakamura
S
S
Tanaka
K
K
D000328:Adult; D001284:Atrophy; D001483:Base Sequence; D018891:Dentate Gyrus / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D012012:Red Nucleus / Q000473:pathology; D012091:Repetitive Sequences, Nucleic Acid; D013132:Spinocerebellar Degenerations / Q000175:diagnosis*
D015335:Molecular Probes