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Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

Abstract：

:Intergenerational stability of the CAG repeat number has been considered to be a specific molecular feature of SCA6 compared with other CAG repeat diseases. Nevertheless, we showed meiotic instability of the CAG repeats in the SCA6/CACNL1A gene in two Japanese SCA6 families, including de novo expansion. In one family, the CAG20 allele expanded to the CAG26 one during paternal transmission, and in the other family, the CAG19 allele expanded to the CAG20 one during maternal transmission. Although it is controversial as to whether the CAG20 allele is pathological or not, this is the first case of haplotype analysis-proven de novo expansion in SCA6, confirming the derivation of an expanded allele from one normal allele. We should carefully follow up the individuals carrying the CAG20 allele in our family who show normal neurological and radiological findings at present.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Shimazaki H,Takiyama Y,Sakoe K,Amaike M,Nagaki H,Namekawa M,Sasaki H,Nakano I,Nishizawa M

doi

10.1016/s0022-510x(01)00466-x

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

101-7

issue

2

eissn

0022-510X

issn

1878-5883

pii

S0022510X0100466X

journal_volume

185

pub_type

杂志文章

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