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Article

In-vivo evidence of synucleinopathy in parkinsonism due to VCP mutation.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Mar 2026

Bonan Luigi, D'Angeli Diego, Vacchiano Veria, Postiglione Emanuela, Incensi Alex, Valentino Maria Lucia, Capellari Sabina, Donadio Vincenzo, Rizzo Giovanni, Liguori Rocco

Abstract excerpt

Multisystem proteinopathy 1 (MSP1) is a rare autosomal dominant disorder caused by mutations in the valosin-containing protein (VCP) gene typically presenting with inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). Parkinsonism is a rare feature of MSP1, occurring in 3-4% of cases, with limited post-mortem evidence suggesting...

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Identifiers

PMID: 40931262
DOI: 10.1007/s00702-025-03011-0

Genes

VCP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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