Article
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Frontiers in immunology - 1 Jan 2021
Moeini Shad Tannaz, Yazdani Reza, Amirifar Parisa, Delavari Samaneh, Heidarzadeh Arani Marzieh, Mahdaviani Seyed Alireza, Sadeghi-Shabestari Mahnaz, Aghamohammadi Asghar, Rezaei Nima, Abolhassani Hassan
Abstract excerpt
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms. The demographic, clinical, immunological and genetic data were collected by direct interview and examining the Iranian AT patients with late-onset manifestations. We also conducted a systematic literature review for...
Topics
- Adolescent
- Adult
- Ataxia
- Ataxia Telangiectasia
- Child
- Child, Preschool
- Female
- Humans
- Iran
- Male
- Mutation, Missense
- Phenotype
- T-Lymphocytes, Regulatory
- Young Adult