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

R. Saunders-Pullman, D. Raymond, A. J. Stoessl, D. Hobson, T. Nakamura, S. Pullman, D. Lefton, M. S. Okun, R. Uitti, R. Sachdev, K. Stanley, M. San Luciano, J. Hagenah, R. Gatti, L. J. Ozelius, S. B. Bressman

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


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 families mimicked other forms of early-onset primary torsion dystonia, especially DYT6, with prominent cervical, cranial, and brachial involvement. Mean age at onset was markedly younger in the patients with variant A-T (n = 12) than in patients with other dystonia (n = 23), (12 years vs 40 years, p < 0.05). The patients with A-T were remarkable for the absence of notable cerebellar atrophy on MRI, lack of frank ataxia on examination, and absence of ocular telangi-ectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. Many also developed malignancies. Conclusion: Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia.

Original languageEnglish
Pages (from-to)649-657
Number of pages9
Issue number9
StatePublished - 28 Feb 2012
Externally publishedYes


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