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Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
Author(s) -
Gabsi S.,
GouiderKhouja N.,
Belal S.,
Fki M.,
Kefi M.,
Turki I.,
Hamida M. Ben,
Kayden H.,
Mebazaa R.,
Hentati F.
Publication year - 2001
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2001.00273.x
Subject(s) - ataxia , medicine , vitamin e deficiency , nerve conduction velocity , neurology , endocrinology , neurological examination , gastroenterology , vitamin e , surgery , antioxidant , biochemistry , chemistry , psychiatry
Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the α tocopherol transfer protein gene. The Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intestinal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty‐four AVED patients were fully investigated (electromyography, nerve conduction velocity (NVC) studies, somatosensory evoked potentials, cerebral computed tomography scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1‐year period. Clinical evaluation was mainly based on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and serum Vit E levels were monitored. Serum Vit E levels normalized and ARS scores decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration ≤ 15 years. Reflexes remained abolished and posterior column disturbances unchanged. Vitamin E supplementation in AVED patients stabilizes the neurological signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease.