Article
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
American journal of human genetics - 1 Feb 1998
Cavalier L, Ouahchi K, Kayden H J, Di Donato S, Reutenauer L, Mandel J L, Koenig M
Abstract excerpt
Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by muta...
Topics
- Adolescent
- Adult
- Africa, Northern
- Age of Onset
- Ataxia
- Base Sequence
- Carrier Proteins
- Child
- Child, Preschool
- Diagnosis, Differential
- Europe
- Family