학술논문
A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.
Document Type
Academic Journal
Author
Bruno F; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Conidi ME; Laboratorio Analisi Dell'Ospedale G. Jazzolino-ASP Vibo Valentia (RC), Reggio Calabria, Italy.; Puccio G; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Frangipane F; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Laganà V; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Bernardi L; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Smirne N; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Mirabelli M; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Colao R; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Curcio S; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Di Lorenzo R; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Maletta R; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.; Bruni AC; Regional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Source
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
1664-8021
Abstract
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, VCP mutations have also been documented in patients with amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth type 2 (CMT2) disease, and hereditary spastic paraplegia (HSP), underlining the heterogeneity of the phenotypes due to VCP mutations. In this study, we reported a novel missense heterozygous variant c.1184A > C ( p .D395A) in exon 10 of VCP gene identified in three patients (two sisters and one brother) belonging to an Italian family. The patients underwent a detailed clinical evaluation including medical history, neurological examination, and neuropsychological assessment. Brain's morphologic and functional analysis was also performed. The whole picture was consistent with the criteria of behavioral variant frontotemporal dementia (bvFTD) without IBM and PBD. Our report confirms the high degree of heterogeneity of VCP disease. A VCP analysis should be considered for the genetic screening of familial bvFTD with an early onset also in absence of IBM or PDB signs.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Bruno, Conidi, Puccio, Frangipane, Laganà, Bernardi, Smirne, Mirabelli, Colao, Curcio, Di Lorenzo, Maletta and Bruni.)
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Bruno, Conidi, Puccio, Frangipane, Laganà, Bernardi, Smirne, Mirabelli, Colao, Curcio, Di Lorenzo, Maletta and Bruni.)