[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].
We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia (SCA). A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the (CAG)n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA genes by PCR. The number of (CAG)n was determined by 8% denaturing polyacrylamide gel electrophoresis and direct sequencing. The main features of 2 patients were ataxia, visual failure, retinal degeneration, cerebellar and pontine atrophy. A mutation in SCA7 gene was detected, while no mutations were found in SCA1, SCA2, SCA3, SCA6, SCA17 or DRPLA gene. Therefore, this is a pedigree of SCA7. Analysis of the CAG trinucleotide repeat expansion at the SCA7 locus can provide valuable insights into SCA7.
Yin
Xin-Zhen
XZ
Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China. xinzhen_yin@163.com
Zhang
Bao-Rong
BR
Wu
Ding-Wen
DW
Tian
Jun
J
Zhang
Hao
H
D000328:Adult; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*; D020864:Calcium Channels, N-Type
D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C000593749:ATXN1 protein, human; C000593829:ATXN7 protein, human; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C095278:atrophin-1; C092341:ATXN3 protein, human