Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Abstract 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 (...

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Bibliographic Details
Main Authors: Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean-Jacques Martin, Patrick Cras, Wim Annaert, Christine Van Broeckhoven, BELNEU consortium
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Acta Neuropathologica Communications
Subjects:
Lewy body disease
Dementia with lewy bodies
DLB
Parkinson’s disease
PD
Vacuolar protein sorting 13 homolog C
Online Access:https://doi.org/10.1186/s40478-021-01121-w

Internet

https://doi.org/10.1186/s40478-021-01121-w

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