Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

ABSTRACT:

Objective

To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research.

Methods

Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D) ATM mutation and mutations in DYT1 and DYT6. Clinical features of the individuals with dystonia who were harboring ATM mutations were compared with those of individuals without mutations.

Result

Genetic analysis revealed a homozygous founder mutation in ATM in 13 members from 3 of the families, and no one harbored DYT6 or DYT1 mutations. Dystonia in ATM fami

SUBMITTER: Saunders-Pullman R 

PROVIDER: S-EPMC3286230 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature