Adolescent-onset multisystem proteinopathy due to a novel VCP variant
Issued Date
2024-01-01
Resource Type
ISSN
09608966
eISSN
18732364
Scopus ID
2-s2.0-85181247706
Pubmed ID
38159460
Journal Title
Neuromuscular Disorders
Volume
34
Start Page
89
End Page
94
Rights Holder(s)
SCOPUS
Bibliographic Citation
Neuromuscular Disorders Vol.34 (2024) , 89-94
Suggested Citation
Soontrapa P., Seven N.A., Liewluck T., Cui G., Mer G., Milone M. Adolescent-onset multisystem proteinopathy due to a novel VCP variant. Neuromuscular Disorders Vol.34 (2024) , 89-94. 94. doi:10.1016/j.nmd.2023.11.014 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/95573
Title
Adolescent-onset multisystem proteinopathy due to a novel VCP variant
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Author's Affiliation
Corresponding Author(s)
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Abstract
Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy manifested asymmetrically in lower limbs and extended to proximal, axial, and upper limb muscles, with loss of ambulation at age 35. Creatine kinase value was normal. Alkaline phosphatase was elevated. Electromyography detected mixed low amplitude, short duration and high amplitude, long duration motor unit potentials. Muscle biopsy showed features of inclusion body myopathy, which in combination with newly diagnosed Paget disease of bone, supported the VCP variant pathogenicity. In conclusion, VCP-multisystem proteinopathy is not only a disease of adulthood but can have a pediatric onset and should be considered in differential diagnosis of neuromuscular weakness in the pediatric population.