Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F16%3AN0000055" target="_blank" >RIV/00098892:_____/16:N0000055 - isvavai.cz</a>
Alternative codes found
RIV/46747885:24620/16:00000830 RIV/61989592:15110/16:33160815
Result on the web
<a href="http://dx.doi.org/10.1097/MD.0000000000005398" target="_blank" >http://dx.doi.org/10.1097/MD.0000000000005398</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MD.0000000000005398" target="_blank" >10.1097/MD.0000000000005398</a>
Alternative languages
Result language
angličtina
Original language name
Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.
Original language description
BACKGROUND: A higher prevalence of parkinsonism was recently identified in southeastern Moravia (Czech Republic). Further research confirmed 3 large pedigrees with familial autosomal-dominant parkinsonism spanning 5 generations. METHODS: This case report concerns a patient belonging to one of these 3 pedigrees, in whom motor and oculomotor symptoms were accompanied by frontal-type dementia, who finally developed a clinical phenotype of progressive supranuclear palsy. Molecular genetic examinations were performed due to the positive family history. RESULTS: No previously described causal mutation was found. After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141). CONCLUSION: As to the changes in the FBXO7 and VPS35 genes (despite phylogenetic conservation in primates), probably neither the FBXO7 nor the VPS35 variants will be direct causal mutations. Both described variants, and possibly the influence of their combination, could increase the risk of the disease.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Medicine
ISSN
1536-5964
e-ISSN
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Volume of the periodical
95
Issue of the periodical within the volume
46
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
e5398
UT code for WoS article
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EID of the result in the Scopus database
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