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Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration.
Hayashi, Yuichi; Iwasaki, Yasushi; Waza, Masahiro; Shibata, Hideaki; Akagi, Akio; Kimura, Akio; Inuzuka, Takashi; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yoshida, Mari; Shimohata, Takayoshi.
Afiliación
  • Hayashi Y; a Department of Neurology , Gifu University Graduate School of Medicine , Gifu , Japan.
  • Iwasaki Y; b Autopsy Center of Prion Disease , Institute for Medical Sciences of Aging, Aichi Medical University , Nagakute , Japan.
  • Waza M; c Department of Neurology , Kakamigahara Rehabilitation Hospital , Kakamigahara , Japan.
  • Shibata H; a Department of Neurology , Gifu University Graduate School of Medicine , Gifu , Japan.
  • Akagi A; b Autopsy Center of Prion Disease , Institute for Medical Sciences of Aging, Aichi Medical University , Nagakute , Japan.
  • Kimura A; a Department of Neurology , Gifu University Graduate School of Medicine , Gifu , Japan.
  • Inuzuka T; a Department of Neurology , Gifu University Graduate School of Medicine , Gifu , Japan.
  • Satoh K; d Department of Neurology , Gifu Municipal Hospital , Gifu , Japan.
  • Kitamoto T; e Department of Locomotive Rehabilitation Sciences , Nagasaki University Graduate School of Medicine , Nagasaki , Japan.
  • Yoshida M; f Division of CJD Science and Technology, Department of Prion Research , Center for Translational and Advanced Animal Research on Human Diseases, Tohoku University School of Medicine , Sendai , Japan.
  • Shimohata T; b Autopsy Center of Prion Disease , Institute for Medical Sciences of Aging, Aichi Medical University , Nagakute , Japan.
Prion ; 13(1): 124-131, 2019 01.
Article en En | MEDLINE | ID: mdl-31219399
Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macular degeneration, and focus on the difficulties involved in early clinical diagnosis. An 83-year-old man was admitted to our hospital 15 months after the onset of cortical blindness, and 9 months after the onset of progressive dementia. Neurological examination revealed dementia, frontal signs, visual disturbance, dysphagia, myoclonus and exaggerated tendon reflexes in the four extremities. Diffusion-weighted MRI (DW-MRI) showed cortical hyperintensities predominantly in the bilateral occipital lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129. Cerebrospinal fluid (CSF) examination revealed elevation of 14-3-3 and total tau protein. The symptoms progressed gradually, and the patient died of aspiration pneumonia, 30 months after the onset. Neuropathological examination revealed extensive large confluent vacuole-type spongiform changes in the cerebral cortices. Prion protein (PrP) immunostaining showed perivascular and plaque-type PrP deposits. We diagnosed our patient as MM2C-type sCJD. There are two difficulties in the early clinical diagnosis of MM2C-type sCJD with ocular disease in the elderly; delayed utilization of DW-MRI, and accompaniment of ocular disease. For early diagnosis of MM2C-type sCJD, we conclude that clinician should perform DW-MRI for patients with isolated dementia or cortical visual disturbance.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glaucoma / Síndrome de Creutzfeldt-Jakob / Ceguera Cortical / Degeneración Macular Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Aged80 / Humans / Male Idioma: En Revista: Prion Asunto de la revista: BIOQUIMICA Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glaucoma / Síndrome de Creutzfeldt-Jakob / Ceguera Cortical / Degeneración Macular Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Aged80 / Humans / Male Idioma: En Revista: Prion Asunto de la revista: BIOQUIMICA Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos