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Acta Neuropathologica

, Volume 137, Issue 1, pp 171–173 | Cite as

Atypical parkinsonism of progressive supranuclear palsy–parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology

  • Kateřina MenšíkováEmail author
  • Lucie Tučková
  • Kristýna Kolařiková
  • Tereza Bartoníková
  • Radek Vodička
  • Jiri Ehrmann
  • Radek Vrtěl
  • Martin Procházka
  • Petr Kaňovský
  • Gabor G. Kovacs
Correspondence

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.

This case was a member of a family with positive history of parkinsonism; the family originated from an area of the Czech Republic with a proven increased prevalence of parkinsonism [2, 8]. As described in our previous paper, the patient was an 83-year-old man who had atypical parkinsonism with a phenotype of progressive supranuclear palsy—parkinsonism (PSP-P) with onset at the age of 66 [1] (see Video). The disease manifested initially with the signs typical for...

Notes

Funding

This study was funded by grant from the Ministry of Health of the Czech Republic, grant Nr. 15-32715A, by grant from the Palacky University Medical School Internal Grant Agency—IGA LF 2018-009, and by grant from the Ministry of Health, Czech Republic—conceptual development of research organization—MH CZ – DRO (FNOL, 00098892) 2018 and the OP VVV (Czech Republic) project “Molecular, cellular and clinical approach to the healthy aging – ENOCH”, reg. Nr. CZ.02.1.01/0.0/0.0/16_019/0000868.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

401_2018_1923_MOESM1_ESM.docx (13 kb)
Supplementary material 1 (DOCX 13 kb)
401_2018_1923_MOESM2_ESM.wmv (3.5 mb)
The video demonstrates a case manifesting with the phenotype of PSP-P. There is present severe hypomimia, dysarthria, severe bradykinesia, severe postural instability, together with supranuclear gaze palsy, blepharospasm, apraxia of lid opening and dementia. The patient was completely dependent on his caregiver (WMV 3564 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Kateřina Menšíková
    • 1
    Email author
  • Lucie Tučková
    • 2
  • Kristýna Kolařiková
    • 3
  • Tereza Bartoníková
    • 1
  • Radek Vodička
    • 3
  • Jiri Ehrmann
    • 2
  • Radek Vrtěl
    • 3
  • Martin Procházka
    • 3
  • Petr Kaňovský
    • 1
  • Gabor G. Kovacs
    • 4
  1. 1.Department of Neurology, Faculty of Medicine and DentistryPalacky University, University HospitalOlomoucCzech Republic
  2. 2.Department of Pathology, Faculty of Medicine and DentistryPalacky University, University HospitalOlomoucCzech Republic
  3. 3.Department of Medical Genetics, Faculty of Medicine and DentistryPalacky University, University HospitalOlomoucCzech Republic
  4. 4.Klinisches Institut für Neurologie, Medizinische Universität WienViennaAustria

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