An autopsy case of familial amyotrophic lateral sclerosis and dementia with p.R487H VCP gene mutation

An autopsy case of familial amyotrophic lateral sclerosis and dementia with p.R487H VCP gene mutation

We described an autopsied case of amyotrophic lateral sclerosis (ALS)-dementia with p.R487H mutation in the VCP gene. TDP-43-positive neuronal cytoplasmic inclusions (NCI), neuronal intranuclear inclusions (NII) and glial cytoplasmic inclusions were observed in the brain. The frequency of NCI was sm...

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Bibliographic Details
Main Authors: Kimiko Inoue, Harutoshi Fujimura, Keiko Toyooka, Makito Hirano, Yusaku Nakamura, Saburo Sakoda
Format: Article
Language:English
Published: Taylor & Francis Group 2018-01-01
Series:Cogent Medicine
Subjects:
familial amyotrophic lateral sclerosis
frontotemporal lobar degeneration
valosin containing protein
43-kda tar dna-binding protein (tdp-43)
Online Access:http://dx.doi.org/10.1080/2331205X.2018.1434925

Internet

http://dx.doi.org/10.1080/2331205X.2018.1434925

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