Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.

ABSTRACT:

Background

MAPT is a causative gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), a hereditary degenerative disease with various clinical manifestations, including progressive supranuclear palsy, corticobasal syndrome, Parkinson's disease, and frontotemporal dementia.

Objectives

To analyze genetically, biochemically, and pathologically multiple members of two families who exhibited various phenotypes of the disease.

Methods

Genetic analysis included linkage analysis, homozygosity haplotyping, and exome sequencing. We conducted tau protein microtubule polymerization assay, heparin-induced tau aggregation, and western blotting with brain lysate from an autopsy case. We also evaluated abnormal tau aggregation by using anti-tau antibody a

SUBMITTER: Morino H 

PROVIDER: S-EPMC11145108 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature