ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.

Autor: Milovanović A; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia., Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Stanković I; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia., Tamaš O; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Branković M; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia., Marjanović A; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia., Laabs BH; Institute of Medical Biometry and Statistics, University of Lübeck, University Medical Center Schleswig-Holstein, Lübeck, Germany., Brand M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Rajalingam R; Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada., Marras C; Department of Medicine, Division of Neurology, Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Branković V; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia., Novaković I; School of Medicine, University of Belgrade, Belgrade, Serbia., Petrović I; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Svetel M; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Kostić VS; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Dragašević-Mišković N; Clinic for Neurology, University Clinical Center of Serbia, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 May; Vol. 39 (5), pp. 887-892. Date of Electronic Publication: 2024 Mar 12.
DOI: 10.1002/mds.29729
Abstrakt: Background: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).
Methods: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.
Results: Most patients (>80%) had loss-of-function (LOF) variants. The most common variant was c.1150_1151del, found in all 29 patients of Romani ancestry, who had a 14-year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX-ANO10 (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX-ANO10 diagnosis.
Conclusions: The early disease onset in patients with c.1150_1151del may indicate the existence of genetic/environmental disease-modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
(© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
Externí odkaz: