A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia
Joint Authors
Source
Case Reports in Neurological Medicine
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-02-16
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
It is almost indistinguishable clinically from Friedreich’s ataxia but with appropriate treatment its devastating neurological features can be prevented.
Patients can present with a progressive cerebellar ataxia, pyramidal spasticity, and evidence of a neuropathy with absent deep tendon reflexes.
It is important to screen for this condition on initial evaluation of a young patient presenting with progressive ataxia and it should be considered in patients with a long standing ataxia without any diagnosis in view of the potential therapeutics and genetic counselling.
In this case report we present a patient who was initially diagnosed with Friedreich’s ataxia but was later found to have AVED.
American Psychological Association (APA)
Bonello, Michael& Ray, Partha. 2016. A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia. Case Reports in Neurological Medicine،Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1101324
Modern Language Association (MLA)
Bonello, Michael& Ray, Partha. A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia. Case Reports in Neurological Medicine No. 2016 (2016), pp.1-3.
https://search.emarefa.net/detail/BIM-1101324
American Medical Association (AMA)
Bonello, Michael& Ray, Partha. A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia. Case Reports in Neurological Medicine. 2016. Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1101324
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101324