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Lookup NU author(s): Dr Christopher Morris
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
Objective Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (MAPT). Methods We performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array. Results We identified 2 patients with CBS heterozygous for a rare mutation in MAPT (p.V363I) that is located in the highly conserved microtubule-binding domain. One patient was pathologically confirmed and demonstrated extensive 4-repeat-tau-positive thread pathology, achromatic neurons, and astrocytic plaques consistent with corticobasal degeneration (CBD). Conclusions We report 2 CBS cases carrying the rare p.V363I MAPT mutation, one of which was pathologically confirmed as CBD. Our findings support the notion that this rare coding change is pathogenic.
Author(s): Ahmed S, Fairen MD, Sabir MS, Pastor P, Ding J, Ispierto L, Butala A, Morris CM, Schulte C, Gasser T, Jabbari E, Pletnikova O, Morris HR, Troncoso J, Gelpi E, Pantelyat A, Scholz SW
Publication type: Article
Publication status: Published
Journal: Neurology Genetics
Print publication date: 25/06/2019
Online publication date: 25/06/2019
Acceptance date: 24/06/2019
Date deposited: 03/09/2019
ISSN (electronic): 2376-7839
Publisher: American Academy of Neurology
PubMed id: 31404212
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