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Article

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features.

Acta neuropathologica communications - 7 Dec 2020

Valentino Rebecca R, Koga Shunsuke, Walton Ronald L, Soto-Beasley Alexandra I, Kouri Naomi, DeTure Michael A, Murray Melissa E, Johnson Patrick W, Petersen Ronald C, Boeve Bradley F, Uitti Ryan J, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A, Heckman Michael G

Abstract excerpt

The microtubule-associated protein tau (MAPT) H1 haplotype is the strongest genetic risk factor for corticobasal degeneration (CBD). However, the specific H1 subhaplotype association is not well defined, and it is not clear whether any MAPT haplotypes influence severity of tau pathology or clinical presentation in CBD. Therefore, in the current study we examined 230 neuropathologically confirmed CBD cases and...

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Identifiers

PMID: 33287913
DOI: 10.1186/s40478-020-01097-z
PMCID: PMC7720600

Genes

MAPT

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Related research

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MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features.PMID 33287913Read ↗

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