SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease
Year: 2025
Type: article
Study design: Case Report
Abstract: Background and Objectives: SYNE1 deficiency is an autosomal recessive disorder with a broad phenotypic spectrum, most commonly presenting as adult-onset cerebellar ataxia with or without motor neuron dysfunction. We aimed to expand this spectrum by describing the clinical and genetic findings in 2 unrelated families with early-onset motor neuron disease and virtually no cerebellar signs over time. Methods: . Results: biallelic truncating variants in both families: a homozygous nonsense variant, c.23131C>T (p.Gln7711*), in Family 1, and a novel homozygous splice-site variant, c.17851-1G>A, in Family 2. Notably, mild or no cerebellar manifestations were observed during the follow-up. Discussion: in motor neuron disease gene panels.
Source: Neurology Genetics
Institutions: Centre Hospitalier National Universitaire de Fann, Bellvitge University Hospital, UCL Queen Square Institute of Neurology, University College London, Institut d'Investigació Biomédica de Bellvitge, Centro Nacional de Análisis Genómico, Universitat de Barcelona, Hospital Universitari de Girona Doctor Josep Trueta
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W4416711445