Dataset Information

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

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.

SUBMITTER: Ahmed S

PROVIDER: S-EPMC6659135 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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Publications

<i>MAPT</i> p.V363I mutation: A rare cause of corticobasal degeneration.

Ahmed Sarah S Fairen Monica Diez MD Sabir Marya S MS Pastor Pau P Ding Jinhui J Ispierto Lourdes L Butala Ankur A Morris Christopher M CM Schulte Claudia C Gasser Thomas T Jabbari Edwin E Pletnikova Olga O Morris Huw R HR Troncoso Juan J Gelpi Ellen E Pantelyat Alexander A Scholz Sonja W SW

Neurology. Genetics 20190625 4

<h4>Objective</h4>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 (<i>MAPT</i>).<h4>Methods</h4>We performed a genetic evaluation of <i>MAPT</i> mutations in 826 neurologically healthy controls and 173 cases with CBS using the Illumina NeuroChip ...[more]

PMID: 31404212

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