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

Agnieszka Bajek; Dominika Przewodowska; Dariusz Koziorowski; Maria Jędrzejowska; Stanisław Szlufik

doi:10.3389/fneur.2023.1243535

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

Front Neurol. 2023 Sep 22:14:1243535. doi: 10.3389/fneur.2023.1243535. eCollection 2023.

Authors

Agnieszka Bajek¹, Dominika Przewodowska¹, Dariusz Koziorowski¹, Maria Jędrzejowska^{2

3}, Stanisław Szlufik²

Affiliations

¹ Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland.
² Genomed Health Care Center, Warsaw, Poland.
³ Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Abstract

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. Clinical features of patients with ATLD1 resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation. Main symptoms include progressive cerebellar ataxia, oculomotor apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present a 45-year old woman with cervical and facial dystonia, dysarthria and ataxia, who turned out to be the first case of ATLD without oculomotor apraxia, and with dystonia as a main manifestation of the disease. She had presented those non-specific symptoms for years, before whole exome sequencing confirmed the diagnosis.

Keywords: MRE11 gene; ataxia; ataxia-telangiectasia-like disorder 1; case report; cervical dystonia.

Publication types

Case Reports