Yukiko Tanaka1, Masaki Ikeda2, Ban Mihara3, Yoshio Ikeda2, Katsuya Sato4, Tetsuyuki Kitamoto5, Masaki Takao3,6. 1. Department of Internal Medicine, Medical Corporation Taiseikai, Uchida Hospital, Gunma, Japan. 2. Department of Neurology, Gunma University Graduate School of Medicine, Gunma, Japan. 3. Mihara Memorial Hospital, Gunma, Japan. 4. Department of Locomotive Rehabilitation Science, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. 5. Department of Neurological Sciences, Tohoku University, Graduate School of Medicine, Miyagi, Japan. 6. Department of Neurology, Saitama Medical University International Medical Center, Saitama, Japan.
Abstract
INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is an important dementia disorder. However, clinical diagnosis can be difficult and delayed for many primary physicians caring for dementia patients. The aim of the present study was to describe clinical and neuropathological results of an individual with CJD who was seen by a community hospital. Our report may inform many primary physicians on understanding the significance of CJD. METHODS: Clinical information was obtained from medical records. Neuropathological and biochemical analyses were performed using autopsied brain. RESULTS: A 58-year-old Japanese man who had worked as a carpenter developed memory and executive function impairments. He was initially diagnosed as having Alzheimer's disease based on clinical and neuroradiological analyses. Myoclonus was observed in the later stage of clinical course. Hyperintense lesions on diffusion-weighted images were observed in the cerebral cortex in later stage. Analysis of cerebrospinal fluid showed increased levels of total tau and phospho-tau protein. However, 14-3-3 protein and amyloid β (1-42) were normal. Genetic analysis of the PRNP gene showed methionine homozygosity at codon 129 and glutamate homozygosity at codon 219. The results of neuropathological analysis were consistent with sporadic CJD (MM2 cortical type with some type 1 pattern of 3F4 immunoreactivity). Western blot analysis of the frontal and cerebellar cortex revealed a type 2 and type 1 pattern of proteinase K (PK)-resistant prion protein, respectively. No Alzheimer's pathology was present. CONCLUSIONS: Our experience may help primary physicians to assess dementia patients. Since atypical forms of prion disease are now well-established, we need to consider prion disease in dementia patients. Clinical examination alone is not enough for dementia workup; thus, we must understand the importance of neuropathological study and encourage autopsy to reach a definite diagnosis of dementia.
INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is an important dementia disorder. However, clinical diagnosis can be difficult and delayed for many primary physicians caring for dementia patients. The aim of the present study was to describe clinical and neuropathological results of an individual with CJD who was seen by a community hospital. Our report may inform many primary physicians on understanding the significance of CJD. METHODS: Clinical information was obtained from medical records. Neuropathological and biochemical analyses were performed using autopsied brain. RESULTS: A 58-year-old Japanese man who had worked as a carpenter developed memory and executive function impairments. He was initially diagnosed as having Alzheimer's disease based on clinical and neuroradiological analyses. Myoclonus was observed in the later stage of clinical course. Hyperintense lesions on diffusion-weighted images were observed in the cerebral cortex in later stage. Analysis of cerebrospinal fluid showed increased levels of total tau and phospho-tau protein. However, 14-3-3 protein and amyloid β (1-42) were normal. Genetic analysis of the PRNP gene showed methionine homozygosity at codon 129 and glutamate homozygosity at codon 219. The results of neuropathological analysis were consistent with sporadic CJD (MM2 cortical type with some type 1 pattern of 3F4 immunoreactivity). Western blot analysis of the frontal and cerebellar cortex revealed a type 2 and type 1 pattern of proteinase K (PK)-resistant prion protein, respectively. No Alzheimer's pathology was present. CONCLUSIONS: Our experience may help primary physicians to assess dementia patients. Since atypical forms of prion disease are now well-established, we need to consider prion disease in dementia patients. Clinical examination alone is not enough for dementia workup; thus, we must understand the importance of neuropathological study and encourage autopsy to reach a definite diagnosis of dementia.
Authors: Piero Parchi; Silvio Notari; Petra Weber; Heinz Schimmel; Herbert Budka; Isidre Ferrer; Stéphane Haik; Jean-Jacques Hauw; Mark W Head; James W Ironside; Lucia Limido; Agustin Rodriguez; Thomas Ströbel; Fabrizio Tagliavini; Hans A Kretzschmar Journal: Brain Pathol Date: 2008-07-02 Impact factor: 6.508
Authors: P Parchi; R Castellani; S Capellari; B Ghetti; K Young; S G Chen; M Farlow; D W Dickson; A A Sima; J Q Trojanowski; R B Petersen; P Gambetti Journal: Ann Neurol Date: 1996-06 Impact factor: 10.422
Authors: D N Manners; P Parchi; C Tonon; S Capellari; R Strammiello; C Testa; G Tani; E Malucelli; C Spagnolo; P Cortelli; P Montagna; R Lodi; B Barbiroli Journal: Neurology Date: 2009-04-21 Impact factor: 9.910