SPORADIC CASES OF DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY ASSOCIATED WITH MATERNAL TRANSMISSION

Authors
SHIMOHATA T ISHIGURO H MAKINO K TAKANO H TANAKA H TSUJI S HIROTA K
Citation
T. Shimohata et al., SPORADIC CASES OF DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY ASSOCIATED WITH MATERNAL TRANSMISSION, Neurology, 50(1), 1998, pp. 282-283
Citations number
10
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
50
Issue
1
Year of publication
1998
Pages
282 - 283
Database
ISI
SICI code
0028-3878(1998)50:1<282:SCODAA>2.0.ZU;2-H
Abstract
We report-siblings, a 21-year-old woman (proband) and her 26-year-old brother, with dentatorubral-pallidoluysian atrophy (DRPLA). There was no family history of DRPLA and no clinical abnormalities in their pare nts, who were both above the age of 50. Analysis of the DRPLA gene of leukocytes showed CAG repeat sizes to be 64/17 in the proband, 58/20 i n her brother, and 56/8 in their mother. Sporadic cases of DRPLA can o ccur with maternal as well as paternal transmission.