Juvenile Huntington's disease presenting as progressive myoclonic epilepsy

被引：39

作者：

Gambardella, A

Muglia, M

Labate, A

Magariello, A

Gabriele, AL

Mazzei, R

Pirritano, D

Conforti, FL

Patitucci, A

Valentino, P

Zappia, M

Quattrone, A

机构：

[1] Sch Med, Neurol Inst, Catanzaro, Italy

[2] CNR, Inst Expt Med & Biotechnol, Cosenza, Italy

来源：

NEUROLOGY | 2001年 / 57卷 / 04期

关键词：

D O I：

10.1212/WNL.57.4.708

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be cons causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious.

引用

页码：708 / 711

页数：4

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