Journal Article

DZNE-2020-07263

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png MAPT p.V363I mutation: A rare cause of corticobasal degeneration.

Ahmed, S. ; Fairen, M. D. ; Sabir, M. S. ; Pastor, P. ; Ding, J. ; Ispierto, L. ; Butala, A. ; Morris, C. M. ; Schulte, C.DZNE* ; Gasser, T.DZNE* ; Jabbari, E. ; Pletnikova, O. ; Morris, H. R. ; Troncoso, J. ; Gelpi, E. ; Pantelyat, A. ; Scholz, S. W. (Corresponding author)

2019
Minneapolis, Minn.

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Please use a persistent id in citations: doi:10.1212/NXG.0000000000000347

Abstract: 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).We performed a genetic evaluation of MAPT mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip genotyping array.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).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.

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)
2. Parkinson's Disease Genetics (AG Berg ; AG Berg)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2019

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Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DOAJ Seal ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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