A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family

Bruno, Francesco and Conidi, Maria Elena and Puccio, Gianfranco and Frangipane, Francesca and Laganà, Valentina and Bernardi, Livia and Smirne, Nicoletta and Mirabelli, Maria and Colao, Rosanna and Curcio, Sabrina and Di Lorenzo, Raffaele and Maletta, Raffaele and Bruni, Amalia Cecilia (2021) A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family. Frontiers in Genetics, 12. ISSN 1664-8021

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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.

Item Type: Article
Subjects: Scholar Eprints > Medical Science
Depositing User: Managing Editor
Date Deposited: 11 Feb 2023 05:21
Last Modified: 17 Jun 2024 07:30
URI: http://repository.stmscientificarchives.com/id/eprint/1254

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