Autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease with spongiform changes of the cerebral cortex.
Creutzfeldt-Jakob disease
MV2K
diffusion-weighted MRI
fine vacuole
kuru plaque
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
29
05
2019
revised:
27
07
2019
accepted:
27
07
2019
pubmed:
14
9
2019
medline:
29
4
2020
entrez:
14
9
2019
Statut:
ppublish
Résumé
Comprehensive analysis is required for the accurate diagnosis of MV2-type sporadic Creutzfeldt-Jakob disease (sCJD) because it shows a wide clinicopathological spectrum. Here, we describe the clinical findings and neuropathologic observations of an autopsy-confirmed MV2K-type sCJD case with extensive spongiform changes of the cerebral cortex. In the early disease stages, the patient exhibited gait disturbance with ataxia and gradually showed cognitive dysfunction. Diffusion-weighted magnetic resonance images revealed hyperintense regions in the cerebral cortex, basal ganglia, and particularly in the thalamus. Prion protein (PrP) gene analysis revealed no mutations, and polymorphic codon 129 exhibited methionine and valine heterozygosity. During the course of the disease, a startle reaction was observed, whereas myoclonus was not observed. Electroencephalography showed no periodic sharp wave complexes. The patient died at age 61 years with 13 months total disease duration and did not reach the akinetic mutism state. Pathologic investigation revealed extensive fine vacuole-type spongiform change in the cerebral cortex, and the appearance of vacuolation tended to be more pronounced in the deeper layers. Numerous kuru plaques were observed in the cerebellum. PrP immunostaining revealed extensive diffuse synaptic-type PrP deposition in the cerebral cortex, and the finding was prominent in the deeper layer with perineuronal-type PrP deposition. In the limbic system, basal ganglia, and thalamus, mixed small plaque-type PrP with synaptic-type PrP deposition was observed. In the cerebellar cortex, diffuse synaptic-type PrP depositions were observed with numerous strongly immunopositive plaques. Western blot analysis of examined brain samples revealed mixed type 2 PrP
Substances chimiques
Prion Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
452-460Informations de copyright
© 2019 Japanese Society of Neuropathology.
Références
Parchi P, Giese A, Capellari S et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999; 46: 224-233.
Iwasaki Y, Yoshida M, Hashizume Y, Kitamoto T, Sobue G. Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type. Acta Neuropathol 2006; 112: 561-571.
Iwasaki Y. Creutzfeldt-Jakob disease. Neuropathology 2017; 37: 174-188.
Parchi P, Strammiello R, Notari S et al. Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: An updated classification. Acta Neuropathol 2009; 118: 659-671.
Parchi P, Strammiello R, Giese A, Kretzschmar H. Phenotypic variability of sporadic human prion disease and its molecular basis: Past, present, and future. Acta Neuropathol 2011; 121: 91-112.
Parchi P, de Boni L, Saverioni D et al. Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: An inter-rater study among surveillance centres in Europe and USA. Acta Neuropathol 2012; 124: 517-529.
Kobayashi A, Iwasaki Y, Otsuka H et al. Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein. Acta Neuropathol Commun 2013; 13: 74.
Iwasaki Y, Saito Y, Aiba I et al. An autopsied case of MV2K + C-type sporadic Creutzfeldt-Jakob disease presenting with widespread cerebral cortical involvement and Kuru plaques. Neuropathology 2017; 37: 241-248.
Kitamoto T, Shin RW, Doh-ura K et al. Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 1992; 140: 1285-1294.
Iwasaki Y, Hashizume Y, Yoshida M, Kitamoto T, Sobue G. Neuropathologic characteristics of brainstem lesions in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol 2005; 109: 557-566.
Iwasaki Y, Tatsumi S, Mimuro M, Kitamoto T, Hashizume Y, Yoshida M. Relation between clinical findings and progression of cerebral cortical pathology in MM1-type sporadic Creutzfeldt-Jakob disease: Proposed staging of cerebral cortical pathology. J Neurol Sci 2014; 341: 97-104.
Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991; 82: 239-259.
Braak H, Alafuzoff I, Arzberger T, Kretzschmar H, Del Tredici K. Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry. Acta Neuropathol 2006; 112: 389-404.
Krasnianski A, Schulz-Schaeffer WJ, Kallenberg K et al. Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD. Brain 2006; 129: 2288-2296.
Iwasaki Y, Mimuro M, Yoshida M, Sobue G, Hashizume Y. Clinical diagnosis of Creutzfeldt-Jakob disease: Accuracy based on analysis of autopsy-confirmed cases. J Neurol Sci 2009; 277: 119-123.
Samman I, Schulz-Schaeffer WJ, Wöhrle JC et al. Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2. J Neurol Neurosurg Psychiatry 1999; 67: 678-681.
Shiga Y, Miyazawa K, Sato S et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology 2004; 63: 443-449.
Fukushima R, Shiga Y, Nakamura M, Fujimori J, Kitamoto T, Yoshida Y. MRI characteristics of sporadic CJD with valine homozygosity at codon 129 of the prion protein gene and PrPSc type 2 in Japan. J Neurol Neurosurg Psychiatry 2004; 75: 485-487.
Will RG, Zeidler M, Stewart GE et al. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol 2000; 47: 575-582.
Nozaki I, Hamaguchi T, Sanjo N et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010; 133: 3043-3057.
Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J. CJD discrepancy. Nature 1991; 353: 801-802.