title: Spinocerebellar ataxia type 31 exists in northeast China.
abstract: Spinocerebellar ataxia type 31 (SCA31), is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by late-onset pure cerebellar ataxia. SCA31 is common in Japan but whether or not it exists in other countries is still unclear. In this study, the authors describe a sporadic Chinese patient with SCA31. Although the cardinal clinical features, i.e., late-onset cerebellar ataxia and hearing impairment in our sporadic patient were similar to those described previously in Japan, mild axonal sensorimotor neuropathy was identified in our SCA31 patient, which is somewhat distinct from most prior reports of the disease. This is the first report of SCA31 in China; thus, extending the ethnic association beyond families of Japanese origin. In addition, our study suggests that the clinical features of SCA31 might be broader than previously thought.
authors.affiliation: Department of Neurology, First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Ouyang
authors.forename: Zhiyi
authors.initials: Z
authors.lastname: He
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Xue
authors.initials: X
authors.lastname: Qin
authors.forename: Yinan
authors.initials: Y
authors.lastname: Zhao
authors.forename: Liying
authors.initials: L
authors.lastname: Yuan
mesh_terms: D002681:China; D005260:Female; D006801:Humans; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics