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.
authors.affiliation: Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Habeck
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
authors.forename: Karl H P
authors.initials: KH
authors.lastname: Bentele
authors.forename: Stephan
authors.initials: S
authors.lastname: Unkelbach
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Katrin
authors.initials: K
authors.lastname: Bürk
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Yorck
authors.initials: Y
authors.lastname: Hellenbroich
mesh_terms: D001259:Ataxia / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation; D005858:Germany / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D014364:Tryptophan / Q000235:genetics
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; D014364:Tryptophan