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

摘要: Objective: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that other ascertained for genetics research. Methods: Movement disorder specialists examined 20 Canadian Mennonite adult probands dystonia, as well relatives in 4 families parent-child transmission dystonia. We screened exon 43 c.6200 C>A (p. A2067D) ATM mutation and mutations DYT1 DYT6 . Clinical features individuals who were harboring compared those without mutations. Result: Genetic analysis revealed a homozygous founder 13 members from 3 families, no one harbored or Dystonia mimicked forms early-onset primary torsion especially , prominent cervical, cranial, brachial involvement. Mean age at onset was markedly younger patients A-T (n = 12) than 23), (12 years vs 40 years, p Conclusion: Ataxia telangiectasias may not be treated adulthood, mimic myoclonus-dystonia.