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Conference proceeding
3207 Case series of multisystem proteinopathy due to valosin-containing protein (VCP) gene variants: an inconsistent phenotype
BMJ neurology open, Vol.6(Suppl 1), p.A55
ANZAN Annual Scientific Meeting 2024 (Adelaide, SA, Australia, 21/05/2024–24/05/2024)
2024
Abstract
Valosin-containing protein (VCP) gene mutations are an under recognised autosomal dominant genetic disease presenting with both neurological and non-neurological phenotypes. A missense mutation in VCP can cause a myopathy, Paget’s disease of the bone or frontal temporal dementia. Less commonly seen phenotypes are amyotrophic lateral sclerosis, parkinsonism or axonal CMT. These conditions are not classically recognised as genetically related by clinicians when taking a family history, so the pattern of autosomal dominance is under recognised. This report will describe a case series with varied clinical presentations, gender, and age where VCP missense pathogenic variants were found. It will also describe a case with a variant of uncertain significance in the VCP gene. Valosin-containing protein is involved in regulatory cellular processes such as autophagy, membrane fusion, transcription and cellular degradation. Most pathogenic missense variants alter the N-terminal ubiquitin binding domains. These missense variants result in failure of regulatory cellular processes, which is thought to account for the wide spectrum of body systems affected. This has led to these diseases to be more recently termed VCP Multisystem Proteinopathies (VCP-MSP). It is pertinent that any family history with a combination of these conditions, including varying severity of symptoms, should raise the question of testing for this condition.
Details
- Title
- 3207 Case series of multisystem proteinopathy due to valosin-containing protein (VCP) gene variants: an inconsistent phenotype
- Authors/Creators
- Mark Davis - 2Neurogenetics Department, PathWest, Perth, WA, AustraliaRobert Henderson - 1Department of Neurology, Royal Brisbane and Women`s Hospital, Herston, QLD, AustraliaMerrilee Needham - Fiona Stanley HospitalPamela McCombe - 1Neurology Department, Royal Brisbane and Women`s Hospital, Brisbane, Queensland, AustraliaEmily Watson - Princess Alexandra, Woolloongabba, QLD, AustraliaSusannah Gattas - 1Neurology Department, Princess Alexandra Hospital, Brisbane, QLD, Australia
- Publication Details
- BMJ neurology open, Vol.6(Suppl 1), p.A55
- Conference
- ANZAN Annual Scientific Meeting 2024 (Adelaide, SA, Australia, 21/05/2024–24/05/2024)
- Publisher
- BMJ Publishing Group Ltd., Australian and New Zealand Association of Neurologists (ANZAN); Adelaide, SA, Australia
- Identifiers
- 991005696265207891
- Copyright
- © 2024 BMJ Publishing Group Ltd & Australian and New Zealand Association of Neurologists.
- Murdoch Affiliation
- Health Futures Institute; Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Conference proceeding
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