title: A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
abstract: BACKGROUND
  Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP). Here, we report a novel Senataxin mutation in a Cypriot ARCA family.
  
  
  METHODS
  We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA) families for linkage to known ARCA gene loci. We linked one family (909) to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing.
  
  
  RESULTS
  Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients.
  
  
  CONCLUSIONS
  We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Nicosia, Cyprus. paschali@cing.ac.cy
authors.forename: Paschalis
authors.initials: P
authors.lastname: Nicolaou
authors.forename: Anthi
authors.initials: A
authors.lastname: Georghiou
authors.forename: Christina
authors.initials: C
authors.lastname: Votsi
authors.forename: Lefkos T
authors.initials: LT
authors.lastname: Middleton
authors.forename: Eleni
authors.initials: E
authors.lastname: Zamba-Papanicolaou
authors.forename: Kyproula
authors.initials: K
authors.lastname: Christodoulou
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002648:Child; D002899:Chromosomes, Human, Pair 9; D003535:Cyprus; D004265:DNA Helicases; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D064251:Multifunctional Enzymes; D010375:Pedigree; D020365:RNA Helicases / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases