title: Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
abstract: Autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Nearly 33 genetically distinct subtypes have been defined, and 19 seemingly unrelated disease genes have been identified so far. Recently, mutations in the ATPase family gene 3-like 2 (AFG3L2) gene were presented to cause SCA28 subtype. In order to define the frequency of SCA28 mutation in Chinese mainland, we performed molecular genetic analysis in 67 unrelated affected individuals with ADCA. At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University Changsha, Hunan, China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Jia
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.forename: Yuting
authors.initials: Y
authors.lastname: Shi
authors.forename: Zhanfang
authors.initials: Z
authors.lastname: Sun
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D049069:ATP-Dependent Proteases / Q000235:genetics*; D000074183:ATPases Associated with Diverse Cellular Activities; D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D020754:Spinocerebellar Ataxias / Q000151:congenital; D013132:Spinocerebellar Degenerations / Q000235:genetics*
chemical_list: D049069:ATP-Dependent Proteases; C120699:AFG3L2 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities