In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders
characterized by disturbances of behavior and personality and different types of language …

Using exome sequencing, we identified a p. R191Q amino acid change in the valosin-
containing protein (VCP) gene in an Italian family with autosomal dominantly inherited …

Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration
(FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease …

The term frontotemporal dementia (FTD) describes a clinically, genetically and
pathologically diverse group of neurodegenerative disorders. Symptoms of FTD can present …

Through an international consortium, we have collected 37 tau-and TAR DNA-binding
protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present …

Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation
and autophagy, cause VCP disease, a progressive autosomal dominant adult onset …

Background: Recently, the FUS gene was identified as a new causal gene for amyotrophic
lateral sclerosis (ALS) in∼ 4% of patients with familial ALS. Since ALS and frontotemporal …

There is increasing evidence that frontotemporal lobar degeneration (FTLD) and
amyotrophic lateral sclerosis (ALS) represent a continuum of neurodegenerative diseases …

Homozygous mutations in exon 2 of TREM2, a gene involved in Nasu-Hakola disease, can
cause frontotemporal dementia (FTD). Moreover, a rare TREM2 exon 2 variant (p. R47H) …