Published in:
01-01-2019 | Correspondence
Atypical parkinsonism of progressive supranuclear palsy–parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology
Authors:
Kateřina Menšíková, Lucie Tučková, Kristýna Kolařiková, Tereza Bartoníková, Radek Vodička, Jiri Ehrmann, Radek Vrtěl, Martin Procházka, Petr Kaňovský, Gabor G. Kovacs
Published in:
Acta Neuropathologica
|
Issue 1/2019
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Excerpt
A total of 23 gene loci have been identified in association with Parkinson’s disease (PD), but the neuropathological background has been described in only a few of them. We had recently an opportunity to study the pathological finding in case of atypical parkinsonism associated with rare sequence variants in the
FBXO7 and
VPS35 genes; the neuropathology associated with variants in these genes has not yet been described [
9]. All steps of the study were approved by the local ethics committee of the University Hospital Olomouc. …