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

C. Jansen, J. C. Van Swieten, S. Capellari, R. Strammiello, P. Parchi, A. J M Rozemuller

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Abstract

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 characterised 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 cooccurrence 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 emphasising the need to carry out pre-mortem PRNP sequencing in all young patients with atypical dementias.

Original languageEnglish
Pages (from-to)1386-1389
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume80
Issue number12
DOIs
Publication statusPublished - Dec 2009

Fingerprint

Creutzfeldt-Jakob Syndrome
Genes
Phenotype
Cerebellar Cortex
Prion Diseases
Purkinje Cells
Protein Sequence Analysis
Genetic Association Studies
Parkinsonian Disorders
Codon
Methionine
Cerebellum
Sequence Analysis
Dementia
Western Blotting
Genotype
Staining and Labeling
Prion Proteins

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery

Cite this

Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology. / Jansen, C.; Van Swieten, J. C.; Capellari, S.; Strammiello, R.; Parchi, P.; Rozemuller, A. J M.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 80, No. 12, 12.2009, p. 1386-1389.

Research output: Contribution to journalArticle

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