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

✍ Scribed by Matthias Habeck; Christine Zühlke; KarlH.P. Bentele; Stephan Unkelbach; Wolfram Kreß; Katrin Bürk; Eberhard Schwinger; Yorck Hellenbroich

Publisher
Springer
Year
2004
Tongue
English
Weight
183 KB
Volume
251
Category
Article
ISSN
0340-5354

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## Abstract ## Background: Sporadic‐onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia. ## Meth