Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation.
VCP
Parkinson disease
deep brain stimulation
myopathy
next generation sequencing
valosin-containing protein
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
revised:
14
03
2023
received:
06
11
2022
accepted:
16
04
2023
medline:
6
7
2023
pubmed:
12
5
2023
entrez:
12
5
2023
Statut:
ppublish
Résumé
Mutations in the gene encoding valosin-containing protein (VCP) are related to myriad medical conditions, including familial amyotrophic lateral sclerosis, inclusion body myopathy, and frontotemporal dementia. There are several reports of a link between these mutations and early onset Parkinson disease (PD). We report a 53-year-old PD patient with VCP mutation who later developed motor complications, thus receiving subthalamic nucleus deep brain stimulation (DBS) at the age of 56 years. However, myopathy emerged 1.5 years after surgery. With the phenotype variability of VCP, DBS should be carefully evaluated, considering the possible unfavorable long-term outcomes due to other symptoms of this mutation.
Sections du résumé
BACKGROUND AND PURPOSE
Mutations in the gene encoding valosin-containing protein (VCP) are related to myriad medical conditions, including familial amyotrophic lateral sclerosis, inclusion body myopathy, and frontotemporal dementia. There are several reports of a link between these mutations and early onset Parkinson disease (PD).
CASE DESCRIPTION
We report a 53-year-old PD patient with VCP mutation who later developed motor complications, thus receiving subthalamic nucleus deep brain stimulation (DBS) at the age of 56 years. However, myopathy emerged 1.5 years after surgery.
CONCLUSIONS
With the phenotype variability of VCP, DBS should be carefully evaluated, considering the possible unfavorable long-term outcomes due to other symptoms of this mutation.
Substances chimiques
Valosin Containing Protein
EC 3.6.4.6
Cell Cycle Proteins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2583-2586Informations de copyright
© 2023 European Academy of Neurology.
Références
Gitcho MA, Strider J, Carter D, et al. VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. J Biol Chem. 2009;284:12384-12398.
Chan N, Le C, Shieh P, et al. Valosin-containing protein mutation and Parkinson's disease. Parkinsonism Relat Disord. 2012;18:107-109.
Fujimaki M, Kanai K, Funabe S, et al. Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report. J Neurol. 2017;264:1284-1286.
Regensburger M, Türk M, Pagenstecher A, Schröder R, Winkler J. VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. Neurology. 2017;89:746-748.
Spina S, Van Laar AD, Murrell JR, et al. Phenotypic variability in three families with valosin-containing protein mutation. Eur J Neurol. 2013;20:251-258.
Manno A, Noguchi M, Fukushi J, Motohashi Y, Kakizuka A. Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Genes Cells. 2010;15:911-922.
Wenning GK, Stankovic I, Vignatelli L, et al. The movement disorder society criteria for the diagnosis of multiple system atrophy. Mov Disord. 2022;37:1131-1148.
Nonnekes J, Růžička E, Serranová T, Reich SG, Bloem BR, Hallett M. Functional gait disorders: a sign-based approach. Neurology. 2020;94:1093-1099.
Breen DP, Rohani M, Moro E, et al. Functional movement disorders arising after successful deep brain stimulation. Neurology. 2018;90:931-932.
Holtbernd F, Eidelberg D. Functional brain networks in movement disorders: recent advances. Curr Opin Neurol. 2012;25:392-401.
Schüpbach WM, Rau J, Houeto JL, et al. Myths and facts about the EARLYSTIM study. Mov Disord. 2014;29:1742-1750.
Zhu J, Pittman S, Dhavale D, et al. VCP suppresses proteopathic seeding in neurons. Mol Neurodegener. 2022;17:30.
Gorcenco S, Ilinca A, Almasoudi W, Kafantari E, Lindgren AG, Puschmann A. New generation genetic testing entering the clinic. Parkinsonism Relat Disord. 2020;73:72-84.
Salles PA, Mata IF, Fernandez HH. Should we start integrating genetic data in decision-making on device-aided therapies in Parkinson disease? A point of view. Parkinsonism Relat Disord. 2021;88:51-57.
Pal G, Mangone G, Hill EJ, et al. Parkinson disease and subthalamic nucleus deep brain stimulation: cognitive effects in gba mutation carriers. Ann Neurol. 2022;91:424-435.