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

Matthias Habeck; Christine Zühlke; Karl H.P. Bentele; Stephan Unkelbach; Wolfram Kreß; Katrin Bürk; Eberhard Schwinger; Yorck Hellenbroich

doi:10.1007/s00415-004-0374-7

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

Matthias Habeck, Christine Zühlke, Karl H.P. Bentele, Stephan Unkelbach, Wolfram Kreß, Katrin Bürk, Eberhard Schwinger, Yorck Hellenbroich^*

^*Corresponding author for this work

Institute of Human Genetics

24 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Journal of Neurology
Volume	251
Issue number	5
Pages (from-to)	591-594
Number of pages	4
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-004-0374-7
Publication status	Published - 05.2004

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10.1007/s00415-004-0374-7

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title = "Aprataxin mutations are a rare cause of early onset ataxia in Germany",

abstract = "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.",

author = "Matthias Habeck and Christine Z{\"u}hlke and Bentele, \{Karl H.P.\} and Stephan Unkelbach and Wolfram Kre{\ss} and Katrin B{\"u}rk and Eberhard Schwinger and Yorck Hellenbroich",

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doi = "10.1007/s00415-004-0374-7",

language = "English",

volume = "251",

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TY - JOUR

T1 - Aprataxin mutations are a rare cause of early onset ataxia in Germany

AU - Habeck, Matthias

AU - Zühlke, Christine

AU - Bentele, Karl H.P.

AU - Unkelbach, Stephan

AU - Kreß, Wolfram

AU - Bürk, Katrin

AU - Schwinger, Eberhard

AU - Hellenbroich, Yorck

PY - 2004/5

Y1 - 2004/5

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/2542495194

U2 - 10.1007/s00415-004-0374-7

DO - 10.1007/s00415-004-0374-7

M3 - Journal articles

C2 - 15164193

AN - SCOPUS:2542495194

SN - 0340-5354

VL - 251

SP - 591

EP - 594

JO - Journal of Neurology

JF - Journal of Neurology

IS - 5

ER -

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

Abstract

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