Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

Tremor and Other Hyperkinetic Movements

article

Andrew E. Becker¹  Wendy Vargas²  Toni S. Pearson³ 

[1] Icahn School of Medicine at Mount Sinai;Department of Neurology, Columbia University College of Physicians and Surgeons;Department of Neurology, Icahn School of Medicine at Mount Sinai

关键词: Tremor;    myoclonus;    AVED;    TTPA;    myoclonus–dystonia;   

DOI  :  10.5334/tohm.298

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. Case Report: An 11-year-old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14-year-old older brother had dystonic head tremor and generalized dystonia. One year later, the brother developed dysarthria, limb dysmetria, and gait ataxia. Compound heterozygous mutations in TTPA were detected, confirming the diagnosis of AVED. Discussion: AVED may present with dystonia rather than ataxia, and should be considered in the differential diagnosis of progressive dystonia.

【 授权许可】

CC BY