International guidelines for diseases related to the VCP gene

On the initiative and with the support of the patient association concerned (Cure VCP Disease), a group of American experts worked on the development of recommendations for the diagnosis and management of people with abnormalities of the VCP gene:

• this gene is responsible for a clinical picture classically associating inclusion body myopathy, Paget’s disease and frontotemporal dementia;
• the diagnosis may be more difficult in the case of atypical forms (association with a parkinsonian syndrome or anterior horn involvement);
• the use of high-throughput sequencing (next-generation sequencing or NGS) now facilitates genotypic diagnosis and allows genetic counseling for the rest of the family, this condition being autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère.;
• a multidisciplinary follow-up in a reference center is necessary in all cases.

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Korb M, Peck A, Alfano LN, et al. Orphanet J Rare Dis. 2022 Jan 29;17(1):23.