Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

ABSTRACT:

Objective

Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations.

Methods

Cross-sectional data were collected retrospectively. Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity.

Results

The study includes 57 individuals. Mean age at assessment was 37.5 years. Most had their first symptoms by age 10 (81%). There was a diagnostic delay of more than 10 years in 68% and more than 20 years in one third of probands. Disease severity was mild in one third of patients, and 43% were still amb

SUBMITTER: Schon K 

PROVIDER: S-EPMC6590299 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature