Article
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Acta neuropathologica communications - 12 Feb 2021
Smolders Stefanie, Philtjens Stéphanie, Crosiers David, Sieben Anne, Hens Elisabeth, Heeman Bavo, Van Mossevelde Sara, Pals Philippe, Asselbergh Bob, Dos Santos Dias Roberto, Vermeiren Yannick, Vandenberghe Rik, Engelborghs Sebastiaan, De Deyn Peter Paul, Martin Jean-Jacques, Cras Patrick, Annaert Wim, Van Broeckhoven Christine
Abstract excerpt
Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous and compound heterozygous premature termination codon (PTC) mutations in the Vacuolar Protein Sorting 13 homolog C gene (VPS13C) are associated with early-onset recessive PD. We...
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