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Article

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Neurobiology of aging - 1 May 2017

Gatto Emilia M, Allegri Ricardo F, Da Prat Gustavo, Chrem Mendez Patricio, Hanna David S, Dorschner Michael O, Surace Ezequiel I, Zabetian Cyrus P, Mata Ignacio F

Abstract excerpt

Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin...

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Identifiers

PMID: 28268100
DOI: 10.1016/j.neurobiolaging.2017.02.002
PMCID: PMC5385275

Genes

MAPT
CBS
GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.PMID 28268100Read ↗

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