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

Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ (2012) Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 33:2231.e1–2231.e6. https://doi.org/10.1016/j.neurobiolaging.2012.04.005

Article  CAS  PubMed  Google Scholar 

Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang Ak, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V (2018) Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet 93:119–125. https://doi.org/10.1111/cge.13095

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alshaikh JT, Paul A, Moukheiber E, Scholz SW, Pantelyat A (2024) VCP mutations and parkinsonism: an emerging link. Clin Park Relat Disord 10:100230. https://doi.org/10.1016/j.prdoa.2023.100230

Article  PubMed  Google Scholar 

Chu S, Xie X, Payan C, Stochaj U (2023) Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases. Mol Neurodegener 18:52. https://doi.org/10.1186/s13024-023-00639-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

de Bot ST, Schelhaas HJ, Kamsteeg E-J, van de Warrenburg BPC (2012) Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain J Neurol 135 e223; author reply e224. https://doi.org/10.1093/brain/aws201

Donadio V, Wang Z, Incensi A, Rizzo G, Fileccia E, Vacchiano V, Capellari S, Magnani M, Scaglione C, Maserati S, Avoni M, Liguori P, Zou R, W (2021) Vivo diagnosis of synucleinopathies: A comparative study of skin biopsy and RT-QuIC. Neurology 96:e2513–e2524. https://doi.org/10.1212/WNL.0000000000011935

Article  CAS  PubMed  PubMed Central  Google Scholar 

Evangelista T, Weihl CC, Kimonis V, Lochmüller H, VCP related diseases Consortium (2016) 215th ENMC international workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, the Netherlands. Neuromuscul Disord NMD 26:535–547. https://doi.org/10.1016/j.nmd.2016.05.017

Article  PubMed  Google Scholar 

Fujimaki M, Kanai K, Funabe S, Takanashi M, Yokoyama K, Li Y, Hattori N (2017) Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report. J Neurol 264:1284–1286. https://doi.org/10.1007/s00415-017-8467-2

Article  PubMed  Google Scholar 

Giannoccaro MP, La Morgia C, Rizzo G, Carelli V (2017) Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson’s disease. Mov Disord Off J Mov Disord Soc 32:346–363. https://doi.org/10.1002/mds.26966

Article  Google Scholar 

Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BGH, Noegel AA, Schröder R (2007) Pathological consequences of VCP mutations on human striated muscle. Brain J Neurol 130:381–393. https://doi.org/10.1093/brain/awl238

Article  Google Scholar 

Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang Y-D, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Consortium ITALSGEN, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ (2010) Exome sequencing reveals VCP mutations as a cause of Familial ALS. Neuron 68:857–864. https://doi.org/10.1016/j.neuron.2010.11.036

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim NC, Tresse E, Kolaitis R-M, Molliex A, Thomas RE, Alami NH, Wang B, Joshi A, Smith RB, Ritson GP, Winborn BJ, Moore J, Lee J-Y, Yao T-P, Pallanck L, Kundu M, Taylor JP (2013) VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron 78:65–80. https://doi.org/10.1016/j.neuron.2013.02.029

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim YS, Park DG, Kim MS, Yoon JH (2023) Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation. Eur J Neurol 30:2583–2586. https://doi.org/10.1111/ene.15824

Article  PubMed  Google Scholar 

Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D (2000) Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med Off J Am Coll Med Genet 2:232–241. https://doi.org/10.1097/00125817-200007000-00006

Article  CAS  Google Scholar 

Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GDJ (2008) Clinical studies in Familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A 146A:745–757. https://doi.org/10.1002/ajmg.a.31862

Article  PubMed  PubMed Central  Google Scholar 

Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V, VCP standards of care working group (2022). Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis 17:23. https://doi.org/10.1186/s13023-022-02172-5

Mayer T, Scholle L, Foerster L, Schneider I, Stoltenburg-Didinger G, Delank KS, Kendzierski T, Koelsch A, Kleeberg K, Kraya T, Barba L, Naegel S, Schänzer A, Otto M, Mensch A (2025) Alpha-Synuclein as a potential biomarker for inclusion body myositis in blood and muscle. Neuropathol Appl Neurobiol 51:e70019. https://doi.org/10.1111/nan.70019

Article  PubMed  PubMed Central  Google Scholar 

Mehta SG, Khare M, Ramani R, Watts GDJ, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE (2013) Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet 83:422–431. https://doi.org/10.1111/cge.12000

Article  CAS  PubMed  Google Scholar 

Meyer H, Weihl CC (2014) The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis. J Cell Sci 127:3877–3883. https://doi.org/10.1242/jcs.093831

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nybø CJ, Gustavsson EK, Farrer MJ, Aasly JO (2020) Neuropathological findings in PINK1-associated parkinson’s disease. Parkinsonism Relat Disord 78:105–108. https://doi.org/10.1016/j.parkreldis.2020.07.023

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med Off J Am Coll Med Genet 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  Google Scholar 

Schneider SA, Alcalay RN (2017) Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature. Mov Disord Off J Mov Disord Soc 32:1504–1523. https://doi.org/10.1002/mds.27193

Article  Google Scholar 

Sharma A, Dhavale DD, Kotzbauer PT, Weihl CC (2024) VCP Inhibition augments NLRP3 inflammasome activation. Inflammation 47:1868–1883. https://doi.org/10.1007/s10753-024-02013-6

Article  CAS  PubMed  Google Scholar 

Spina S, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B (2013) Phenotypic variability in three families with valosin-containing protein mutation. Eur J Neurol 20:251–258. https://doi.org/10.1111/j.1468-1331.2012.03831.x

Article  CAS  PubMed  Google Scholar 

Vacchiano V, Mometto N, Bartoletti-Stella A, Rizzo G, Abu-Rumeileh S, Salvi F, Parchi P, Liguori R, Capellari S (2021) The clinical spectrum of multisystem proteinopathy: data from a neurodegenerative cohort. J Neurol Sci 426:117478. https://doi.org/10.1016/j.jns.2021.117478

Article  PubMed  Google Scholar 

Yamashita S, Takahashi Y, Hashimoto J, Murakami A, Nakamura R, Katsuno M, Izumi R, Suzuki N, Warita H, Aoki M, Japan MSP Study Group (2024) Nationwide survey of patients with multisystem proteinopathy in Japan. Ann Clin Transl Neurol 11:938–945. https://doi.org/10.1002/acn3.52011

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhu J, Pittman S, Dhavale D, French R, Patterson JN, Kaleelurrrahuman MS, Sun Y, Vaquer-Alicea J, Maggiore G, Clemen CS, Buscher WJ, Bieschke J, Kotzbauer P, Ayala Y, Diamond MI, Davis AA, Weihl C (2022) VCP suppresses proteopathic seeding in neurons. Mol Neurodegener 17:30. https://doi.org/10.1186/s13024-022-00532-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Comments (0)

No login
gif