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. 2023 Dec 1:10:100230.
doi: 10.1016/j.prdoa.2023.100230. eCollection 2024.

VCP mutations and parkinsonism: An emerging link

Jumana T Alshaikh  1 , Ashley Paul  2 , Emile Moukheiber  2 , Sonja W Scholz  2   3 , Alexander Pantelyat  2
Affiliations

VCP mutations and parkinsonism: An emerging link

Jumana T Alshaikh et al. Clin Park Relat Disord. .
No abstract available

Keywords: Parkinsonism; VCP mutations.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Mutations in VCP-associated parkinsonism patients. (A) This graphical representation illustrates the clinical heterogeneity of VCP-associated parkinsonism. An ideogram of chromosome 9 is shown at the top of the figure with an enlarged view of the VCP gene location and the observed VCP mutations underneath. Red circles denote the presence of a specific phenotype. All mutations are depicted relative to the canonical sequence NM_007126 (hg38). (B) depicts the pedigrees of the two parkinsonism cases presented in this article. In family A, a pathogenic, segregating R191G mutation was found, while affected members in family B carried the pathogenic R155C mutation. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)
See this image and copyright information in PMC

References

    1. González-Pérez P., Cirulli E.T., Drory V.E., Dabby R., Nisipeanu P., Carasso R.L., Sadeh M., Fox A., Festoff B.W., Sapp P.C., McKenna-Yasek D., Goldstein D.B., Brown R.H., Jr, Blumen S.C. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology. 2012;79(22):2201–2208. - PMC - PubMed
    1. Regensburger M., Türk M., Pagenstecher A., Schröder R., Winkler J. VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. Neurology. 2017;89(7):746–748. - PubMed
    1. Al-Obeidi E., Al-Tahan S., Surampalli A., Goyal N., Wang A.K., Hermann A., Omizo M., Smith C., Mozaffar T., Kimonis V. Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2018;93(1):119–125. - PMC - PubMed
    1. Alieva A., Rudenok M., Filatova E., Karabanov A., Doronina O., Doronina K., Kolacheva A., Ugrumov M., Illarioshkin S., Slominsky P., Shadrina M. VCP expression decrease as a biomarker of preclinical and early clinical stages of Parkinson's disease. Sci Rep. 2020;10(1):827. - PMC - PubMed
    1. Mizuno Y., Hori S., Kakizuka A., Okamoto K. Vacuole-creating protein in neurodegenerative diseases in humans. Neurosci Lett. 2003;343(2):77–80. - PubMed

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