title: Clinical and genetic analysis of spinocerebellar ataxia in Mali.
abstract: BACKGROUND
  Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome.
  
  
  RESULTS
  Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7 (CAG) mutation was confirmed in six patients. Mutations were expanded from 49 to 59 repeats. In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats.
  
  
  CONCLUSIONS
  Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.
authors.affiliation: Department of Neurology, Point G Hospital, Bamako, Mali. doyentraore@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Traoré
authors.forename: T
authors.initials: T
authors.lastname: Coulibaly
authors.forename: K G
authors.initials: KG
authors.lastname: Meilleur
authors.forename: A
authors.initials: A
authors.lastname: La Pean
authors.forename: M
authors.initials: M
authors.lastname: Sangaré
authors.forename: G
authors.initials: G
authors.lastname: Landouré
authors.forename: F
authors.initials: F
authors.lastname: Mochel
authors.forename: M
authors.initials: M
authors.lastname: Karambé
authors.forename: C O
authors.initials: CO
authors.lastname: Guinto
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008302:Mali / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*