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JNNP: Genotype-phenotype correlations in valosin-containing diseases

 Last Update: 2022-10-08
 Source: Internet
 Author: User

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Valosin-containing protein (VCP) is a AAA+ (ATPase associated with multiple cellular activities) ubiquitous protein involved in protein degradation and cellular homology regulation by the ubiquitin-proteasome system

The IBMPFD nomenclature is defective, and VCP mutations impair autophagy and endocytic transport and increase ATPase activity due to structural changes

This is an international descriptive retrospective study that collected data from routine clinical care visits in patients with MSP

Time to development of signs/symptoms from disease onset

The study included 255 patients (70.

Sign/symptom frequency between the two most common variants

In 2004, six missense pathogenic variants were identified in patients with the triad of myopathy, PDB, and FTD, and the VCP gene was found to be the cause of IBMPFD

After a mean follow-up of 5.

This study extends knowledge about the phenotypic manifestations, natural history, genotype-phenotype correlations, and risk factors for disease progression of VCP disease and contributes to improved care for patients with this complex disease

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