Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G.

ABSTRACT:

Introduction

The clinical, radiological, and pathological features have not been well documented for the recently discovered autosomal-dominant vacuolar tauopathy (VT) harboring the Valosin-containing protein (VCP) p.Asp395Gly variant.

Methods

We investigated the clinical, neuropsychological, physiological, laboratory, and radiological data and neuropathological findings in five symptomatic VT cases who met the diagnostic criteria for frontotemporal dementia (FTD). Radiological data were also collected from two pre-symptomatic carriers.

Results

All participants had heterozygous c.1184A > G, p.Asp395Gly in VCP. All symptomatic cases exhibited cognitive, behavioral, and/or language dysfunction indicative of FTD in their 30s to 50s. Neuroimaging studies revealed marked b

SUBMITTER: Watanabe R 

PROVIDER: S-EPMC12271978 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature