Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 8406473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5260 (Electronic) Linking ISSN: 01677063 NLM ISO Abbreviation: J Neurogenet Subsets: MEDLINE

Publication: London : Informa Healthcare
Original Publication: [Amsterdam : Elsevier Science Publishers, c1983-

Brain/*pathology ; Calcium Channels/*genetics ; Spinocerebellar Ataxias/*genetics; Aged ; Female ; Genetic Testing ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Spinocerebellar Ataxias/pathology

This study reports the first family in which spinocerebellar ataxia type 6 (SCA6) and spinocerebellar ataxia type 31 (SCA31) mutations were seen. An index patient first presented to our hospital due to gait and speech disturbances. Subsequent clinical investigation of this patient and her family members revealed consistent pure cerebellar ataxia transmitted in an autosomal-dominant manner. Genetic examination unexpectedly demonstrated that two of the five affected individuals had expansions of SCA6 and SCA31, while two others had SCA31 alone and the remaining had SCA6. Clinical manifestations were more severe in individuals with combined mutations relative to those with single mutation, suggesting that the SCA6 and SCA31 mutations have a cumulative pathogenic effect.

Keywords: Combined cases; Scale for the Assessment and Rating of Ataxia; pure cerebellar ataxia; spinocerebellar ataxia 31; spinocerebellar ataxia 6

0 (CACNA1A protein, human)
0 (Calcium Channels)

Date Created: 20150526 Date Completed: 20160819 Latest Revision: 20151106

20240829

10.3109/01677063.2015.1054992

26004545