Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five-octapeptide repeat insertion and unusual cerebellar morphology.
International audience ; An atypical case of inherited Creutzfeldt-Jakob disease (CJD) is described in a 35-year old Dutch woman, homozygous for methionine at codon 129 of the prion protein gene (PRNP). The clinical phenotype was characterized by slowly progressive cognitive decline and Parkinsonism. Neuropathological findings consisted of scanty spongiosis and only faint to absent immunohistochemical staining for the abnormal prion protein, PrPSc, with patchy deposits in the cerebellar cortex. Purkinje cells were abnormally located in the molecular layer of the cerebellum. Western blot analys... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2009 |
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HAL CCSD
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Schlagwörter: | CREUTZFELDT-JAKOB DISEASE / GENETICS / PRION |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27010369 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hal.science/hal-00552754 |