Journal Article

DZNE-2020-03305

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene.

Varges, D. (Corresponding author) ; Schulz-Schaeffer, W. J. ; Wemheuer, W. M. ; Damman, I. ; Schmitz, M. ; Cramm, M.DZNE* ; Kallenberg, K. ; Shirneshan, K. ; Elkenani, M. ; Markwort, S. ; Faist, M. ; Kohlhase, J. ; Windl, O. ; Zerr, I. (Last author)DZNE*

2013
Springer73057 Berlin

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Please use a persistent id in citations: doi:10.1007/s00415-013-6897-z

Abstract: We discuss relevant aspects in two siblings with a neurodegenerative process of unclear aetiology who developed progressive dementia with global aphasia and hyperoral behaviour at the ages of 39 and 46 years and who died 6 and 5 years after disease onset. The cases were reported to the National Reference Center for TSE Surveillance in Göttingen, Germany. Detailed clinical examinations, CSF, blood samples, and copies of the important diagnostic tests (magnetic resonance imaging, electroencephalogram, laboratory tests) were obtained. Further neuropathological and genetic analyses were performed. Cerebral magnetic resonance imaging of both siblings showed prominent changes in signal intensity, especially in the left medial temporal cortex, but also the hippocampal formation. Neuropathological examination revealed spongiform changes, neuronal loss, and astrocytic gliosis, which are typical in Creutzfeldt-Jakob disease. However, no prion protein deposits were detectable by immunohistochemical analysis, Western blot, or PET blot, though abundant tau protein deposits were observed. A mutation in the coding region of the prion protein genes of both siblings was excluded. A detailed search of the literature revealed no other cases with a similar clinical and neuropathological appearance. While the disease aetiology remains unclear, the findings point to a neurodegenerative process and most likely a genetic disease.

Keyword(s): Adult (MeSH) ; Aphasia: genetics (MeSH) ; Aphasia: pathology (MeSH) ; Dementia: genetics (MeSH) ; Dementia: pathology (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Neurodegenerative Diseases: genetics (MeSH) ; Neurodegenerative Diseases: pathology (MeSH) ; Prion Diseases: genetics (MeSH) ; Prion Diseases: pathology (MeSH) ; Siblings (MeSH)

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Contributing Institute(s):

1. Translational Studies and Biomarker (AG Zerr)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2013

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Database coverage:
; BIOSIS Previews ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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