Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease

Anna S. Berghoff, Anita Trummert, Ursula Unterberger, Thomas Ströbel, T. Hortobágyi, Gabor G. Kovacs

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We describe an atypical neuropathological phenotype of sporadic Creutzfeldt-Jakob disease in a 76-year-old man. The clinical symptoms were characterized by progressive dementia, gait ataxia, rigidity and urinary incontinence. The disease duration was 6 weeks. MRI did not show prominent atrophy or hyperintensities in cortical areas, striatum or thalamus. Biomarker examination of the cerebrospinal fluid deviated from that seen in pure Alzheimer's disease. Triphasic waves in the EEG were detected only later in the disease course, while 14-3-3 assay was positive. PRNP genotyping revealed methionine homozygosity (MM) at codon 129. Neuropathology showed classical CJD changes corresponding to the MM type 1 cases. However, a striking feature was the presence of abundant kuru-type plaques in the white matter. This rare morphology was associated with neuropathological signs of intranuclear inclusion body disease and advanced stage of argyrophilic grain disease. These alterations did not show correlation with each other, thus seemed to develop independently. This case further highlights the complexity of neuropathological alterations in the ageing brain.

Original languageEnglish
Pages (from-to)336-342
Number of pages7
JournalNeuropathology
Volume35
Issue number4
DOIs
Publication statusPublished - Aug 1 2015

Fingerprint

Kuru
Intranuclear Inclusion Bodies
Phenotype
Gait Ataxia
Cytomegalovirus Infections
Urinary Incontinence
Thalamus
Codon
Methionine
Atrophy
Cerebrospinal Fluid
Dementia
Electroencephalography
Alzheimer Disease
Biomarkers
Brain
White Matter
Acquired CJD

Keywords

  • Argyrophilic grain disease
  • Creutzfeldt-Jakob disease
  • Intranuclear inclusion body disease
  • Kuru plaque
  • Prion

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

Cite this

Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease. / Berghoff, Anna S.; Trummert, Anita; Unterberger, Ursula; Ströbel, Thomas; Hortobágyi, T.; Kovacs, Gabor G.

In: Neuropathology, Vol. 35, No. 4, 01.08.2015, p. 336-342.

Research output: Contribution to journalArticle

Berghoff, Anna S. ; Trummert, Anita ; Unterberger, Ursula ; Ströbel, Thomas ; Hortobágyi, T. ; Kovacs, Gabor G. / Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease. In: Neuropathology. 2015 ; Vol. 35, No. 4. pp. 336-342.
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