Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clin...

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Bibliographic Details
Main Authors: Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Stanisław Szlufik
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Neurology
Subjects:
ataxia-telangiectasia-like disorder 1
cervical dystonia
MRE11 gene
ataxia
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1243535/full

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