title: Spinocerebellar ataxia type 10 - A review.
abstract: Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by an expanded ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene, on chromosome 22q13.3. SCA10 represents a rare form of SCA, until now only described in Latin America, particularly in Mexico, Brazil, Argentina and Venezuela. In Mexico and Brazil SCA10 represents the second most common type of autosomal dominant cerebellar ataxia. The phenotype described in Mexico, is characterized by the association of cerebellar ataxia with epilepsy, while in Brazil the SCA10 phenotype is that of a pure cerebellar ataxia. As yet unidentified genotypic variables may account for this phenotypic difference.
authors.affiliation: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Renato P
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Walter O
authors.initials: WO
authors.lastname: Arruda
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Lineu César
authors.initials: LC
authors.lastname: Werneck
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
mesh_terms: D001118:Argentina; D001938:Brazil; D004827:Epilepsy / Q000235:genetics; D005838:Genotype; D006801:Humans; D007843:Latin America; D008800:Mexico; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D014687:Venezuela