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Review
. 2024 Dec:52:101169.
doi: 10.1016/j.spen.2024.101169. Epub 2024 Nov 19.

Ataxia telangiectasia

John Collyer  1 , Deepa S Rajan  2
Affiliations
Review

Ataxia telangiectasia

John Collyer et al. Semin Pediatr Neurol. 2024 Dec.

Abstract

Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous manifestations, this multisystemic disorder also has important immunologic, oncologic, respiratory, and endocrinologic implications. This article will review the function of the ATM gene, the neurologic manifestations of AT, non-neurologic complications, mimickers of AT (including other disorders of defective DNA repair), and the realm of therapeutic research for AT.

Keywords: Ataxia; Ataxia telangiectasia; Neurocutaneous disorder.

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Deepa S Rajan reports a relationship with National Scleroderma Foundation that includes: funding grants. Deepa S Rajan reports a relationship with Takeda Pharmaceutical Company Limited that includes: consulting or advisory. Deepa S Rajan reports a relationship with Sanofi-Aventis US LLC that includes: consulting or advisory. Deepa S Rajan reports a relationship with Takeda Pharmaceuticals USA Inc that includes: funding grants. Deepa S Rajan reports a relationship with Denali Therapeutics Inc that includes: funding grants. Deepa S Rajan reports a relationship with Ultragenyx Pharmaceutical Inc that includes: funding grants. Deepa S Rajan reports a relationship with Prevail Therapeutics that includes: funding grants. Deepa S Rajan reports a relationship with REGENXBIO Inc that includes: funding grants. Associate Editor, Medlink Neurology If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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