Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia.
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.


METHODS
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.


CONCLUSIONS
AVED may present with dystonia rather than ataxia, and should be considered in the differential diagnosis of progressive dystonia.
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Andrew E
AE
Becker
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Wendy
W
Vargas
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Toni S
TS
Pearson
AVED; TTPA; Tremor; myoclonus; myoclonus–dystonia