Article
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
Cerebellum (London, England) - 1 Jun 2022
Karlsson William Kristian, Højgaard Joan Lilja Sunnleyg, Vilhelmsen Anna, Crone Clarissa, Andersen Birgit, Law Ian, Møller Lisbeth Birk, Nielsen Troels Tolstrup, Nielsen Emilie Neerup, Krag Thomas, Svenstrup Kirsten, Nielsen Jørgen Erik
Abstract excerpt
Pathogenic variants in the SYNE1 gene are associated with a phenotypic spectrum spanning from late-onset, slowly progressive, relatively pure ataxia to early-onset, fast progressive multisystemic disease. Since its first description in 2007 as an adult-onset ataxia in French Canadian families, subsequent identification of patients worldwide has widened the clinical spectrum and increased the number of identified...
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