MAPT p.V363I mutation A rare cause of corticobasal degeneration

Sarah Ahmed, Monica Diez Fairen, Marya S. Sabir, Pau Pastor, Jinhui Ding, Lourdes Ispierto, Ankur Butala, Christopher M. Morris, Claudia Schulte, Thomas Gasser, Edwin Jabbari, Olga Pletnikova, Huw R. Morris, Juan Troncoso, Ellen Gelpi, Alexander Pantelyat, Sonja W. Scholz

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article number347
JournalNeurology: Genetics
Volume5
Issue number4
DOIs
StatePublished - Aug 1 2019

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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