Article
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2022
Van de Vondel Liedewei, De Winter Jonathan, Beijer Danique, Coarelli Giulia, Wayand Melanie, Palvadeau Robin, Pauly Martje G, Klein Katrin, Rautenberg Maren, Guillot-Noël Léna, Deconinck Tine, Vural Atay, Ertan Sibel, Dogu Okan, Uysal Hilmi, Brankovic Vesna, Herzog Rebecca, Brice Alexis, Durr Alexandra, Klebe Stephan, Stock Friedrich, Bischoff Almut Turid, Rattay Tim W, Sobrido María-Jesús, De Michele Giovanna, De Jonghe Peter, Klopstock Thomas, Lohmann Katja, Zanni Ginevra, Santorelli Filippo M, Timmerman Vincent, Haack Tobias B, Züchner Stephan, Schüle Rebecca, Stevanin Giovanni, Synofzik Matthis, Basak A Nazli, Baets Jonathan
Abstract excerpt
BACKGROUND: Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. OBJECTIVES: We investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia. METHODS: We screened 10,000 NGS datasets across two international consortia...
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