Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission

被引：5

作者：

Shimohata, T

Ishiguro, H

Makino, K

Takano, H

Tanaka, H

Tsuji, S

Hirota, K

机构：

[1] Niigata Univ, Brain Res Inst, Dept Neurol, Clin Neurosci Branch, Niigata 951, Japan

[2] Akita Red Cross Hosp, Dept Neurol, Akita, Japan

来源：

NEUROLOGY | 1998年 / 50卷 / 01期

关键词：

D O I：

10.1212/WNL.50.1.282

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 parents, 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 in her brother, and 56/8 in their mother. Sporadic cases of DRPLA can occur with maternal as well as paternal transmission.

引用

页码：282 / 283

页数：2

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