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MAPT p.V363I mutation: A rare cause of corticobasal degeneration

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.

Publication metadata

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

Year: 2019

Volume: 5

Issue: 4

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


DOI: 10.1212/NXG.0000000000000347

PubMed id: 31404212


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