{Reference Type}: Journal Article
{Title}: ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.
{Author}: Milovanović A;Westenberger A;Stanković I;Tamaš O;Branković M;Marjanović A;Laabs BH;Brand M;Rajalingam R;Marras C;Lohmann K;Branković V;Novaković I;Petrović I;Svetel M;Klein C;Kostić VS;Dragašević-Mišković N;
{Journal}: Mov Disord
{Volume}: 39
{Issue}: 5
{Year}: 2024 May 12
{Factor}: 9.698
{DOI}: 10.1002/mds.29729
{Abstract}: <B>BACKGROUND: </B>Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.