Article
[Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].
Revue neurologique - 1 Jul 2000
Triki C, Feki I, Meziou M, Turki H, Zahaf A, Mhiri C
Abstract excerpt
Ataxia telangiectasia is a multisystem disease with an autosomal recessive inheritance. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiencies and high incidence of neoplasia and radiosensitivity. A 5 year retrospective survey included 24 patients belonging to 17 families. Cerebellar ataxia was the first clinical symptom and was usually noticed...
Topics
- Age of Onset
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromosome Aberrations
- DNA-Binding Proteins
- Disease Progression
- Female
- Follow-Up Studies
- Genes, Recessive
- Genetic Predisposition to Disease