Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
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SUBMITTER: Smolders S
PROVIDER: S-EPMC7881566 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Smolders Stefanie S Philtjens Stéphanie S Crosiers David D Sieben Anne A Hens Elisabeth E Heeman Bavo B Van Mossevelde Sara S Pals Philippe P Asselbergh Bob B Dos Santos Dias Roberto R Vermeiren Yannick Y Vandenberghe Rik R Engelborghs Sebastiaan S De Deyn Peter Paul PP Martin Jean-Jacques JJ Cras Patrick P Annaert Wim W Van Broeckhoven Christine C
Acta neuropathologica communications 20210212 1
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 observed in two siblings with early-onset age (< 45) and autopsy confirmed DLB, compou ...[more]
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2021-09-08 | PXD016069 | Pride