title: Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population.
abstract: The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. In 2010, four missense mutations in the prodynorphin (PDYN) gene were found in two families and two sporadic cases of SCA type 23 (SCA23) from the Netherlands. In addition, one missense mutation in PDYN was also found in one sporadic SCA23 case in America in 2012. To date, there have been no reports of PDYN gene mutations in mainland China. To investigate the frequency of SCA23 among the Chinese Han population, we performed polymerase chain reaction (PCR) and DNA direct sequencing of the PDYN gene in 305 unrelated ataxia patients. Although no SCA23 mutation was identified, one novel single nucleotide polymorphism (c.255G>A, p.Lys85Lys) in exon 4 of the PDYN gene was found. This suggests that SCA23 is a rare form of dominant ataxia in the Chinese Han population.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
authors.forename: Yu-Tao
authors.initials: YT
authors.lastname: Liu
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Jun-Ling
authors.initials: JL
authors.lastname: Wang
authors.forename: Wen-Juan
authors.initials: WJ
authors.lastname: Guan
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Shi
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhou
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004745:Enkephalins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011498:Protein Precursors / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D055815:Young Adult
chemical_list: D004745:Enkephalins; D011498:Protein Precursors; C033660:preproenkephalin