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
23 Citations (Scopus)


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 languageEnglish
JournalJournal of Neurology
Issue number5
Pages (from-to)591-594
Number of pages4
Publication statusPublished - 05.2004

Research Areas and Centers

  • Research Area: Medical Genetics


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