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

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Fig. 1

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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.

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Authors and Affiliations

  1. Department of Neurology, Faculty of Medicine and Dentistry, Palacky University, University Hospital, I. P. Pavlova 6, 775 20, Olomouc, Czech Republic

    Kateřina Menšíková, Tereza Bartoníková & Petr Kaňovský

  2. Department of Pathology, Faculty of Medicine and Dentistry, Palacky University, University Hospital, Olomouc, Czech Republic

    Lucie Tučková & Jiri Ehrmann

  3. Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacky University, University Hospital, Olomouc, Czech Republic

    Kristýna Kolařiková, Radek Vodička, Radek Vrtěl & Martin Procházka

  4. Klinisches Institut für Neurologie, Medizinische Universität Wien, Vienna, Austria

    Gabor G. Kovacs

Authors
  1. Kateřina Menšíková
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  2. Lucie Tučková
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  3. Kristýna Kolařiková
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  4. Tereza Bartoníková
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  5. Radek Vodička
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  6. Jiri Ehrmann
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  7. Radek Vrtěl
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  8. Martin Procházka
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  9. Petr Kaňovský
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  10. Gabor G. Kovacs
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Corresponding author

Correspondence to Kateřina Menšíková.

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The authors declare that they have no conflict of interest.

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Supplementary material 1 (DOCX 13 kb)

401_2018_1923_MOESM2_ESM.wmv

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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Menšíková, K., Tučková, L., Kolařiková, K. et al. Atypical parkinsonism of progressive supranuclear palsy–parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology. Acta Neuropathol 137, 171–173 (2019). https://doi.org/10.1007/s00401-018-1923-y

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  • DOI: https://doi.org/10.1007/s00401-018-1923-y

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