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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

23 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Journal of Neurology
Jahrgang	251
Ausgabenummer	5
Seiten (von - bis)	591-594
Seitenumfang	4
ISSN	0340-5354
DOIs	https://doi.org/10.1007/s00415-004-0374-7
Publikationsstatus	Veröffentlicht - 05.2004

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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",

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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 - http://www.scopus.com/inward/record.url?scp=2542495194&partnerID=8YFLogxK

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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