The natural history of ataxia-telangiectasia (A-T): A systematic review.

ABSTRACT:

Background

Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition.

Objectives

Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature.

Search methods

107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 -present, Web of Science core collection, Elsevier Scopus, and Cochrane Library.

Selection criteria

All human studies that report any aspect of A-T.

Data collection and analysis

Search results were de-duplicated,

SUBMITTER: Petley E 

PROVIDER: S-EPMC9049793 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature