期刊
NEUROLOGY
卷 78, 期 9, 页码 649-657出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0b013e3182494d51
关键词
-
资金
- NIH [NS26636, K23NS047256]
- Bachmann-Strauss Dystonia & Parkinson Foundation
- Parkinson's Disease Foundation
- NIH/NINDS [K23NS047256, K02NS073836]
- Michael J. Fox Foundation for Parkinson's Research
- Thomas Hartman Foundation for Parkinson's Research
- Marcled Foundation
- Thomas Hartman Foundation for Parkinson's Research, Inc.
- Novartis
- Teva Pharmaceutical Industries Ltd.
- Allergan, Inc.
- Abbott
- CIHR
- Michael Smith Foundation for Health Research
- Pacific Alzheimer Research Foundation
- NIH
- Parkinson Disease Foundation
- Michael J. Fox Foundation
- Columbia University
- Ceregene and VasSol, Inc.
- Dystonia Medical Research Foundation
- National Parkinson Foundation
- Medical Advisory Board for the Tourette Syndrome Association
- Medtronic, Inc.
- University of Florida Foundation
- Tyler's Hope for a Dystonia Cure
- Advanced Neuromodulations Systems
- PARRF
- PSG
- Noscira, Inc.
- Lundbeck Inc.
- American Academy of Neurology Foundation
- Ataxia-Telangiectasia Medical Research Foundation
- Ataxia-Telangiectasia Ease Foundation
- Athena Diagnostics, Inc.
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 telangiectasias 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. Neurology (R) 2012;78:649-657
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据