Article
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.
Neurobiology of aging - 1 Dec 2013
Ling Helen, Kara Eleanna, Bandopadhyay Rina, Hardy John, Holton Janice, Xiromerisiou Georgia, Lees Andrew, Houlden Henry, Revesz Tamas
Abstract excerpt
Leucine-rich repeat kinase 2 (LRRK2) mutation is the most common cause of genetic-related parkinsonism and is usually associated with Lewy body pathology; however, tau, α-synuclein, and ubiquitin pathologies have also been reported. We report the case of a patient carrying the LRRK2 G2019S mutation and a novel heterozygous variant c.370C>G, p.Q124E in exon 4 of the microtubule-associated protein tau (MAPT). The...
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