Details:

Alternative Title:
Mov Disord Clin Pract
Publisher's site:
http://dx.doi.org/10.1002/mdc3.12307
Personal Author:
Umeh, Chizoba C. ; Kalakoti, Piyush ; Greenberg, Michael K ; Notari, Silvio ; Cohen, Yvonne ; ... More +
Umeh, Chizoba C. ; Kalakoti, Piyush ; Greenberg, Michael K ; Notari, Silvio ; Cohen, Yvonne ; Gambetti, Pierluigi ; Oblak, Adrian L. ; Ghetti, Bernardino ; Mari, Zoltan Less -
Description:
Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism-dystonia. The patient was studied clinically (videotaped exams, brain MRIs); molecular genetically (gene sequence analysis); and neuropathologically (histology, immunohistochemistry) during his 7-month disease course. The patient had parkinsonism, apraxia, aphasia, and dystonia, which progressed rapidly. Molecular genetic analysis revealed PRNP P102L mutation carrier status. Brain MRIs revealed progressive global volume loss and T2/FLAIR hyperintensity in neocortex and basal ganglia. Postmortem examination showed neuronal loss, gliosis, spongiform changes, and PrP deposition in the striatum. PrP immunohistochemistry revealed widespread severe PrP deposition in the thalamus and cerebellar cortex. Based on the neuropathological and molecular-genetic analysis, the rapidly progressing parkinsonism-dystonia correlated with nigrostriatal, thalamic, and cerebellar pathology.
Subject:
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Article Dystonia Gerstmann-Sträussler-Scheinker Disease P102L Mutation Parkinsonism Prion Protein
Source:
Mov Disord Clin Pract. 3(4):355-358
Pubmed ID:
27617269
Pubmed Central ID:
PMC5015693
Document Type:
Journal Article
Funding:
P30 AG010133/AG/NIA NIH HHSUnited States/ ; P50 NS038377/NS/NINDS NIH HHSUnited States/ ; U51 CK000100/CK/NCEZID CDC HHSUnited States/
P30 AG010133/AG/NIA NIH HHSUnited States/ ; P50 NS038377/NS/NINDS NIH HHSUnited States/ ; U51 CK000100/CK/NCEZID CDC HHSUnited States/ Less -
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:9949dd124cfc605d664d31102fb7d364bd8cd509301b4570b1408bce28a8747f
Download URL:
https://stacks.cdc.gov/view/cdc/42919/cdc_42919_DS1.pdf
File Type:

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