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Article

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

Journal of neurology - 1 May 2004

Habeck Matthias, Zühlke Christine, Bentele Karl H P, Unkelbach Stephan, Kress Wolfram, Bürk Katrin, Schwinger Eberhard, Hellenbroich Yorck

Abstract excerpt

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...

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Source

Identifiers

PMID: 15164193
DOI: 10.1007/s00415-004-0374-7

Genes

APTX

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Aprataxin mutations are a rare cause of early onset ataxia in Germany.PMID 15164193Read ↗

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.Semantic proximity Read ↗

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.Semantic proximity Read ↗

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