Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

1997 ◽  
Vol 93 (6) ◽  
pp. 633-637 ◽  
Author(s):  
A. Larnaout ◽  
S. Belal ◽  
M. Zouari ◽  
M. Fki ◽  
C. Ben Hamida ◽  
...  
Keyword(s):  
Vitamin E ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Vitamin E Deficiency ◽  
Tunisian Patient

scholarly journals A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Michael Bonello ◽  
Partha Ray
Keyword(s):  
Vitamin E ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Alpha Tocopherol ◽  
Vitamin E Deficiency ◽  
Appropriate Treatment ◽  
Progressive Ataxia ◽  
Progressive Cerebellar Ataxia ◽  
Autosomal Recessive Condition ◽  
Neurological Features

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.

scholarly journals Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families

2014 ◽  
Vol 04 (04) ◽  
pp. 299-305
Author(s):  
Fatima Imounan ◽  
Naima Bouslam ◽  
El Hachmia Aitbenhaddou ◽  
Wafa Regragui ◽  
Ahmed Bouhouche ◽  
...  
Keyword(s):  
Vitamin E ◽  
Genetic Study ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Vitamin E Deficiency

Coenzyme Q10and vitamin E deficiency in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10therapy

2008 ◽  
Vol 15 (12) ◽  
pp. 1371-1379 ◽  
Author(s):  
J. M. Cooper ◽  
L. V. P. Korlipara ◽  
P. E. Hart ◽  
J. L. Bradley ◽  
A. H. V. Schapira
Keyword(s):  
Vitamin E ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Vitamin E Deficiency

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like

2014 ◽  
Vol 62 (1) ◽  
pp. 41-48
Author(s):  
M. Maalej ◽  
E. Mkaouar-Rebai ◽  
M. Mnif ◽  
N. Mezghani ◽  
I. Ben Ayed ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Tunisian Patient

Friedreich’s ataxia: Coenzyme Q10 and vitamin E therapy

Mitochondrion ◽  
2007 ◽  
Vol 7 ◽  
pp. S127-S135 ◽  
Author(s):  
J.M. Cooper ◽  
A.H.V. Schapira
Keyword(s):  
Vitamin E ◽  
Coenzyme Q10 ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia
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