Article
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
Journal of the neurological sciences - 15 Mar 2009
Tazir M, Ali-Pacha L, M'Zahem A, Delaunoy J P, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat J M, Hamri A, Koenig M
Abstract excerpt
Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. In AOA2 patients, the mean age at onset for...
Topics
- Adolescent
- Adult
- Age of Onset
- Apraxias
- Atrophy
- Cerebellar Ataxia
- Cerebellum
- DNA Helicases
- DNA Mutational Analysis
- Disease Progression
- Female