Aprataxin mutations are a rare cause of early onset ataxia in Germany

被引：19

作者：

Habeck, M

Zühlke, C

Bentele, KHP

Unkelbach, S

Kress, W

Bürk, K

Schwinger, E

Hellenbroich, Y

机构：

[1] Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

[2] Univ Hamburg, Klin Kinder & Jugendmed, Hamburg, Germany

[3] Praxis Kinder & Jugendmed, Volkach, Germany

[4] Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany

[5] Univ Tubingen, Neurol Klin, D-72074 Tubingen, Germany

来源：

JOURNAL OF NEUROLOGY | 2004年 / 251卷 / 05期

关键词：

APTX; aprataxin; ataxia; ocular motor apraxia;

D O I：

10.1007/s00415-004-0374-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

引用

页码：591 / 594

页数：4

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