Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five-octapeptide repeat insertion and unusual cerebellar morphology. - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Neurology, Neurosurgery and Psychiatry Année : 2009

Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five-octapeptide repeat insertion and unusual cerebellar morphology.

Résumé

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 analysis showed the co-occurrence of PrPSc types 1 and 2 with an unusual distribution. Sequence analysis disclosed a novel 120 bp insertion in the octapeptide repeat region of the PRNP, encoding five additional R2 octapeptide repeats. These features define an unusual neuropathological phenotype and novel genotype, further expanding the spectrum of genotype-phenotype correlations in inherited prion diseases and emphasizing the need to carry out pre-mortem PRNP sequencing in all young patients with atypical dementias.
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Dates et versions

hal-00552754 , version 1 (06-01-2011)

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Casper Jansen, John van Swieten, Sabina Capellari, Rosaria Strammiello, Piero Parchi, et al.. Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five-octapeptide repeat insertion and unusual cerebellar morphology.. Journal of Neurology, Neurosurgery and Psychiatry, 2009, 80 (12), pp.1386. ⟨10.1136/jnnp.2008.169359⟩. ⟨hal-00552754⟩

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