Sporadic Creutzfeldt-Jacob Disease Research Articles

P025 Routine Giant-cell arteritis turned Heidenhain variant of sporadic Creutzfeldt-Jakob disease: a mysterious case report!

Abstract Background/Aims Giant-cell arteritis (GCA) is a large vessel vasculitis predominantly affecting those above 50 years of age. Creutzfeldt-Jacob disease (CJD) is not a well-recognised differential diagnosis of GCA presentation. Prion diseases are progressive, currently untreatable and ultimately fatal. Methods We report the case of a 76-year-old female who had an eventful hospital stay of 37 days. She has a history of asthma, hypertension, ulcerative colitis and right-sided GCA 5 years back (normal inflammatory markers & biopsy). Results The patient presents to Harlow ED with a right temporal headache with tenderness, jaw claudication symptoms, blurred vision, diplopia, dizziness and painful right eye movements. Her CRP was <1 and ESR was 5. The plan was to treat it as a recurrence of her GCA and to continue with the high dose Prednisolone started by the ED. CT Head was normal. Owing to poor response, IV Methyl Pred was given. On day six, patient was re-admitted with worsening headache and generalised decline. Ophthalmology review noted multiple visual field defects and treated as GCA. A neurology review noted the patient to be encephalopathic. Advice was for MRI head and CSF analysis - both NAD. On day 12 she had ongoing headache, diplopia, poor vision/memory, and reduced hearing in right ear, but alert and following instructions. On day 17, ENT suggestion was to treat as Meniere’s and start on Betahistine. On day 22, the patient had a TIA episode and discussed with Stroke team. Repeat CT Head was nil acute. By day 26, the patient was unresponsive intermittently and was treated as hypoactive delirium. On day 31 a seizure activity was noticed. Neurology review on day 33 noted rapid decline- the patient being mute, seizure/atypical encephalitis. MRI-Head with contrast showed the possibility of CJD. The very next day patient was reviewed by the team from National CJD Research and Surveillance team, Edinburgh. The formal diagnosis given was: probable Sporadic CJD (visual/Heidanhain variant), rapidly progressive cognitive decline with visual signs, myoclonus, and akinetic mutism, positive MRIs, bland CSF, no clear iatrogenic or variant risk factors, and no credible alternative diagnosis. The distressed family members were updated and the patient was put on EoL pathway. She died peacefully four days later (Day 37). Conclusion The importance of this case is the conflicting inputs from at least five specialities in a rapidly deteriorating patient. A background of previous right-sided GCA did prompt initial treatment in those lines. MRI Head DWI sequence did show the classic ‘cortical ribboning’ with right caudate and lentiform hyperintensity; which clinched the mysterious diagnosis of this rare disease which requires public health surveillance. CJD is to be suspected in any undiagnosed rapidly progressive mental deterioration or dementia, often with behavioural abnormalities and myoclonus. Disclosure S. Narikkoottungal: None. K. Gunasekera: None. K. Ahmed: None.

Characteristics of Different Types of Prion Diseases - China's Surveillance.

This report briefly described the establishment and implementation of national surveillance for human prion disease (PrD) in China. Reported cases came from Chinese surveillance network for PrD. Immunohistochemistry, Western blot, enzyme-linked immunosorbent assay (ELISA), Polymerase Chain Reaction (PCR), and real-time quaking-induced conversion (RT-QuIC) tests were used for the samples of brain, cerebrospinal fluid (CSF), and blood. Diagnosis standard for the PrDs is based on the National Commission of Health (WS/T 562-2017). The study summarized major epidemiological, clinical and laboratory features of more than 2,100 diagnosed different types of Chinese PrD cases. Sporadic Creutzfeldt-Jacob disease (sCJD) is the predominant type of PrD (88.7%). 19 different genotypes of genetic PrDs (gPrDs) were identified, accounting for about 11.3% of all PrDs, revealing ethno-relationships. No iatrogenic CJD (iCJD) and variant CJD (vCJD) was identified. The characteristics of different types of sCJD in China showed similar features as those reported globally, but gPrDs showed an obvious ethno-relationship.

131 Concurrent presentation of cutaneous vasculitis and Creutzfeldt-Jakob disease

A previously well and independent 84-year-old man presented with subacute behavioural disturbance and cognitive decline, progressing over one month to a bedbound encephalopathic state with myoclonus. Examination at that time revealed global cognitive dysfunction, dysarthria, dysphasia, myoclonus and motor pyramidal signs. MRI study revealed widespread high signal on T2-weighted imaging in the hemi- spheric deep white matter, as well as in the right caudate nucleus. EEG revealed frequent periodic triphasic complexes. CSF examination was positive for 14–3–3 and RTQuIC, with S100b 1.2mg/ml, confirm- ing a diagnosis of sporadic Creutzfeldt-Jacob Disease (CJD).During his admission, we noted the emergence of a vasculitic skin rash over his torso spreading bilater- ally over three days. Punch biopsy confirmed the presence of an acute leucocytoclastic vasculitis not suggestive of a drug-associated rash. Further immunological staining did not detect any abnormal prion protein. The rash persisted until he sadly died 4 weeks after admission.In the literature, there are only 3 reported cases of cutaneous manifestations of CJD. The emergence of an acute vasculitic rash in the context of confirmed CJD in our case may suggest immune dysregulation associated with the latter’s underlying pathophysiology, a direct manifestation of prion protein (despite negative staining) or an unrelated concurrent presentation.katieyoganathan@gmail.com

Sporadic Creutzfeldt–Jacob Disease: A case report

Purpose: Creutzfeldt–Jacob Disease (CJD) is a rare progressive neurodegenerative disorder and the most common form of prion disease. CJD is categorized into four subtypes: sporadic (sCJD), familial, iatrogenic, and variant. The clinical presentation of sCJD is characterized by progressive dementia, myoclonus, visual disturbances, cerebellar ataxia, and pyramidal and/ or extrapyramidal signs. Diagnosis is based on clinical presentation, and the results of an electroencephalogram, cerebrospinal fluid analysis, and cranial magnetic resonance imaging.
 Case Report: The case of an 81-yearold woman with progressive dementia and typical electroencephalogram and magnetic resonance imaging findings for sporadic is presented.
 Conclusion: No single diagnostic test for sCJD is available. In suspected sCJD, the first priority is to exclude treatable forms of dementia, such as encephalitis or chronic meningitis.

Sporadic Creutzfeldt-Jacob disease presenting with cerebral vasoconstriction

CJD is a rare neurodegenerative disorder promptly leading to a vegetative state caused by abnormal deposits of misfolded prion protein. Due to its tumultuous course and variable clinical characteristics, it can constitute a diagnostic challenge at least in its initial stages. To our knowledge there are no reports to date describing the copresence of vasoconstriction during the course of CJD. By describing this case, we could give impulse to further investigate this fascinating association.

Creutzfeldt-Jakob Disease

Sporadic Creutzfeldt-Jacob disease(sCJD)is a prion disease presenting with subacute or rapidly progressive dementia with a poor prognosis. Asymmetrical cortical lesions with thalamic involvement are found in sCJD cases, which is similar distribution to status epileptics, but the lesions are not observed in the limbic systems, and they rarely occur in the precentral gyrus. Characteristically, hyperintense abnormal findings are more prominent on DWI than on FLAIR and T2WI. 19.9% of CJD is genetic CJD(gCJD), and CJD with a mutation of codon 180 from valine to isoleucine(V180I)accounts for 40% of gCJD in Japan. Patients with this type of gCJD rarely have a family history because of the low penetration rate. The age of onset is usually later, and its clinical symptoms deteriorate more slowly than sCJD. DWI shows abnormal cortical hyperintense signals(cortical ribboning).

Calmodulin level is significantly increased in the cerebrospinal fluid of patients with sporadic Creutzfeldt-Jakob disease.

Human prion diseases (PrDs) are a group of fatal and transmissible neurodegenerative disorders that are diagnosed definitively in post mortem brains. Calmodulin (CaM) is a ubiquitous calcium-binding protein. Increased brain CaM level has been reported in prion-infected rodent models and some scrapie-infected cells. However, the putative alteration of CaM in cerebrospinal fluid (CSF) of human PrDs is uncertain. Here, we try to figure out the profiles of CSF CaM in sporadic Creutzfeldt-Jacob disease. Cerebrospinal fluid samples of 40 Chinese patients with probable sporadic Creutzfeldt-Jacob disease (sCJD) and 40 cases without sCJD (non-PrDs) were recruited in this study. The presence of CaM in the CSF was assessed by Western blot, while total tau levels were measured using an enzyme-linked immunosorbent assay kit. In addition, the presence of CaM in another CSF panel consisting of 30 definite sCJD cases and 30 non-PrD cases was evaluated using CaM-specific Western blot analysis. Cerebrospinal fluid CaM positivity was observed in 28/40 cases of probable sCJD and in 9/40 non-PrD cases. The CSF tau levels in the probable sCJD cases were markedly higher than those in the non-PrD cases. Logistic regression established a significant correlation between CSF CaM signal and total CSF tau level. Similar results were observed in the panel of cases with definite sCJD: the rates of CSF CaM positivity in the definite sCJD cases and the non-PrD cases were 22/30 and 6/30, respectively. Although CSF CaM positivity might not be a sCJD-specific phenomenon, a significantly high rate of CaM-positive CSF in sCJD cases, especially in those with high CSF tau levels, rendered it a valuable diagnostic biomarker for sCJD.

P65-F EEG evolution in a case of rapidly progressive dementia

Background Rapidly progressive dementia can be caused by several factors like neurodegenerative, toxic/metabolic, infectious, autoimmune or neoplastic disorders. Here I present a case of this type and the diagnostic process leading to diagnosis. Material and methods This case describes a woman in her sixties admitted to hospital with dementia and anxiety as initial symptoWithin 2 month progression of these symptoms and appearance of apraxia, visual affection and cerebellar gait. The diagnostic process is illustrated. including consecutive EEGs, PET, MRi, CSF markers. Results Initial MRi was considered normal and first EEG with normal posterior dominant rhythm and bi-fronto-temporal 2–3 Hz activity (leftsided dominance) and no paroxystic activity. Repeated tests revealed classic changes seen in sporadic CJD on MRi in the form of cortical ribbon sign and adynamic periodic paroxyms and low frequency activity (2–3 Hz) lateralized in the EEG. CSF with normal count of protein and normal count of White blood cells and elevated count of total tau 1200 (normal range Conclusions Even though a definite diagnosis of Creutzfeldt-Jacob disease (CJD) can only be manifest by brain autopsy or biopsy post mortem a possible or likely diagnosis can be established combining CSF markers, brain imaging and EEG. This case illustrates the importance of EEG and especially consecutive EEGs in the diagnostic process of rapidly progressive dementia.

A network analysis based approach to characterizing periodic sharp wave complexes in electroencephalograms of patients with sporadic CJD

Creutzfeldt–Jacob disease (CJD) is a rapidly progressive, uniformly fatal transmissible spongiform encephalopathy. Sporadic CJD (sCJD) is the most common form of CJD. Electroencephalography (EEG) is one of the main methods to perform clinical diagnosis of CJD, mainly because of periodic sharp wave complexes (PSWCs). In this paper, we propose a network analysis based approach to characterizing PSWCs in EEGs of patients with sCJD. Our approach associates a network with each EEG at disposal and defines a new numerical coefficient and some network motifs, which characterize the presence of PSWCs in an EEG tracing. The new coefficient, called connection coefficient, and the detected network motifs are capable of characterizing the EEG tracing segments with PSWCs. Furthermore, network motifs are able to detect what are the most active and/or connected brain areas in the tracing segments with PSWCs. The results obtained show that, analogously to what happens for other neurological diseases, network analysis can be successfully exploited to investigate sCJD.

Predictive Factors for Early Initiation of Artificial Feeding in Patients With Sporadic Creutzfeldt-Jakob Disease.

Background: Akinetic mutism has often been used as the predictor of sporadic Creutzfeldt-Jacob disease (sCJD) endpoints, but it may be difficult for general physcians to assess. Nasogastric (NG) tube insertion is indicated for many neurodegenerative diseases with a clinical course of swallowing failure, and can be more easily identified than akinetic mutism by general physicians. Therefore, the aim of this study was to identify whether there are predictive factors for early initiation of artificial feeding in patients with sCJD who require enteral nutrition due to swallowing failure.Methods: We retrospectively reviewed the medical records of all patients diagnosed with probable sCJD who were admitted to the neurology ward at a medical center in Taiwan from January 2002 to July 2017. We used Pearson's chi-squared test to detect the correlation of initial symptoms, neurological signs, brain magnetic resonance imaging (MRI), electroencephalography (EEG), and increased levels of 14-3-3 protein in cerebrospinal fluid (CSF) analysis. The Cox proportional hazards model was used to detect prognostic factors for early initiation of NG tube insertion in sCJD patients.Results: The onset age ranged from 51 to 83 years, and mostly ranged from 60 to 79 years. Akinetic mutism was correlated with pyramidal tract signs, myoclonus, and extrapyramidal signs. Furthermore, myoclonus was revealed to be associated with pyramidal tract signs. Multivariate Cox regression analysis showed that myoclonus and elevated CSF levels of 14-3-3 protein are predictive of early NG insertion.Conclusions: Increased levels of 14-3-3 protein in CSF and the presence of myoclonus at diagnosis are predictive of early swallowing difficulty and indicate rapid deterioration in probable sCJD. In addition to akinetic mutism, early initiation of artificial feeding can be used to predict early deterioration in sCJD.

The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI

ABSTRACTPrion diseases are a group of fatal neurodegenerative disorders that affect humans and animals. Besides of the pathological agent, prion, there are some elements that can influence or determine susceptibility to prion infection and the clinical phenotype of the diseases, e.g., the polymorphism in PRNP gene. Another polymorphism in ZBTB38–RASA2 has been observed to be associated with the susceptibility of sporadic Creutzfeldt-Jacob disease (sCJD) in UK. MicroRNAs are endogenous small noncoding RNAs that control gene expression by targeting mRNAs and triggering either translation repression or RNA degradation. In this study, two polymorphic loci in miR-146a (rs2910164 and rs57095329) and one locus in ZBTB38-RASA2 (rs295301) of 561 Chinese patients of sCJD and 31 cases of fatal familial insomnia (FFI) were screened by PCR and sequencing. Our data did not figure out any association of those three SNPs with the susceptibility of sCJD. However, a significant association of the SNP of rs57095329 in miR-146a showed the association with the susceptibility of FFI. Additionally, the SNP of rs57095329 showed statistical significances with the appearances of mutism and the positive of cerebrospinal fluid (CSF) protein 14-3-3 in sCJD patients, while the SNP of ZBTB38-RASA2 was significantly related with the appearance of myoclonus in sCJD patients. It indicates that the SNPs of ZBTB38-RASA2 and miR-146a are not associated with the susceptibility of the Chinese sCJD patients, but may influence the appearances of clinical manifestations somehow.

Emerging clinical issues and multivariate analyses in PET investigations.

PET using 18F-2-fluoro-2-deoxy-D-glucose (FDG-PET) has been gradually introduced in the diagnostic clinical criteria of the most prevalent neurodegenerative diseases. Moreover, an increasing amount of literature has shown that the information provided by FDG-PET enhances the sensitivity of standard imaging biomarkers in less frequent disorders in which an early differential diagnosis can be of paramount relevance for patient management and outcome. Therefore emerging uses of FDG-PET may be important in prion diseases, autoimmune encephalitis (AE) and amyotrophic lateral sclerosis. Interestingly, FDG-PET findings can also be observed in the early phases of these conditions, even in the presence of normal magnetic resonance imaging scans. Thalamic hypometabolism is a common finding in sporadic Creutzfeldt-Jacob disease and fatal familiar insomnia patients, with further cortical synaptic dysfunction in the former. Limbic and extra-limbic metabolic abnormalities (more often hypermetabolism) can be observed in AE, although specific patterns may be seen within different syndromes associated with antibodies that target neuronal surface or synaptic antigens. FDG-PET shows its usefulness by discriminating patients with amyotrophic lateral sclerosis associated to upper motor neuron onset that evolve to frontotemporal dementia. Besides visual and voxel based image analysis, multivariate analysis as interregional correlation analysis and independent/principal component analysis have been successfully implemented to PET images increasing the accuracy of the discrimination of neurodegenerative diseases. The clinical presentation and current diagnostic criteria of these neurologic disorders as well as the emerging usefulness of FDG-PET in the diagnostic workup are presented and discussed in this review.

1-1-05. Electroencephalographic diagnosis of prion disease in Japanese CJD surveillance

The electroencephalographic finding of periodic synchronous discharges (PSDs) is a basic clue for the diagnosis of Creutzfeldt-Jacob disease (CJD). We proposed grading of PSDs. We defined grade A as typical PSDs, grade B as PSDs of relatively longer periodic intervals, grade C as PSDs of relatively rare appearance, grade D as PSDs of rudimentary appearance, and grade E as absent PSDs. The occurrence rate of PSDs in Japanese CJD surveillance was 62% in total CJD (490/794), 72% in sporadic CJD (441/610), 24% in genetic CJD (41/171), and 61% in dura CJD patients (8/13). Among 171 genetic CJD patients, the occurrence rate of PSDs was 0% in P105L mutation CJD (0/2), 3% in V180I mutation CJD (3/90), 14% in P102L mutation CJD (4/29), 70% in E200K mutation CJD (16/23), and 71% in M232R mutation CJD patients (17/24). The occurrence rate of MRI changes in both cortical and basal ganglia was significantly higher in the s-CJD group with PSDs than in the s-CJD group without PSDs. The occurrence rate of PSDs in non-CJD patients who needed differential diagnosis of CJD was 10% (37/355). Non-CJD diseases associated with PSDs were status epilepticus, diffuse Lewy disease, Hashimoto encephalopathy, Wernicke encephalopathy and uremic encephalopathy.

Sporadic Creutzfeldt-Jacob Disease: An 8-Year Experience from a Single Center in Turkey.

Our aim was to conduct a retrospective review to demonstrate the clinical, radiological, and electrophysiological features of patients with sporadic Creutzfeldt-Jacob disease (sCJD). A total of 10 patients (5 female and 5 male, with a mean age of 45 years from a range of 40 to 67 years) out of 8.259 adult patients hospitalized from January 2000 to December 2008 were diagnosed with sCJD. Eight of the patients were diagnosed on the basis of clinical, radiological, electroencephalography (EEG), and cerebrospinal fluid (CSF) findings. Two other patients also had a pathological diagnosis. The most common signs and symptoms were behavioral disturbances, movement disorders, cognitive decline, myoclonus, psychosis, focal neurological deficit, and aphasia. Nine of the patients had periodic sharp wave discharges on EEG. Seven patients were positive for the 14.3.3 protein in the CSF. Five patients had pulvinar signs-a bilateral increased signal in the pulvinar thalami-on cranial magnetic resonance imaging. Eight patients were diagnosed with probable sCJD; two were diagnosed with definite sCJD. All of the patients died as a result of the disease within 24 months after the onset of symptoms. sCJD should be considered in the diagnosis of patients who present with rapidly progressive dementia. Clinical and radiological data appear to be sufficient for the diagnosis. However, detailed molecular examinations of the subtypes of the disease may be required for early diagnosis of cases given the wide spectra of CJD.

A Case of Sporadic Creutzfeldt–Jacob Disease with Unusually Long Survival: Correlation with Clinical Features, Electroencephalogram, and Brain Magnetic Resonance Imaging

Dementia in the elderly is the most common neurodegenerative disease and places a huge burden on public health. Sporadic Creutzfeldt–Jacob disease (sCJD) is sometimes diagnosed in people with dementia; it develops in a rapid and progressive manner and has a short survival duration. The critical issue for sCJD is its transmissible nature. Besides rapid and progressive dementia, two out of four motor symptoms are assessed for a definitive diagnosis, including myoclonus, cerebellar problems, extrapyramidal/pyramidal features, and akinetic mutism. Here we report on a 77-year-old woman with initially pure dementia. Sequential neuroimaging revealed progressive isolated cortical effects over a period of 3 years. Basal ganglia involvement on neuroimaging and generalized periodic sharp wave complexes on electroencephalogram were delayed until the onset of reflex myoclonic jerks occurred 3 years after the onset of dementia. The patient survives, with an unusually long duration for sCJD. According to the clinical and laboratory features observed in this case, awareness of pure dementia with delayed onset of characteristic electroencephalogram features and isolated cortical effects on neuroimaging may predict unusually long survival in sCJD.

P-450 - Inaugural psychiatric presentation of sporadic Creutzfeldt-Jacob disease: case report

The case of a 72-year-old male patient with initial depressive symptoms and visual hallucinations, added to a progressive motor and cognitive neurological impairment, is presented. The patient died of pneumonia 7 weeks after the onset of the symptoms; the necropsy confirmed the diagnosis of Creutzfeldt-Jacob disease (CJD) suggested previously by complementary diagnostic tests (brain magnetic resonance imaging, electroencephalogram, 14-3-3 protein determination in the cerebrospinal fluid and study of the prionic protein gene). Discussion CJD is a rare dementia characterized by a rapidly progressive course. Psychiatric symptoms, including depression and personality change, occur early in the clinical course in about a third of patients, being estimated in some studies that 10% of patients are first admitted to psychiatric wards. Psychiatric symptoms associated with CJD have often lead to erroneous initial diagnoses of functional psychosis, depressive pseudodementia, or hysteria. Analysis of the psychiatric symptoms does not suggest specific features that rapidly allow the differentiation from more common psychiatric disorders, although the occurrence of associated persistent sensory symptoms may raise the possibility of this diagnosis. Later, the characteristic rapidly progressive neurological impairment is decisive in the affirmation of the diagnosis of CJD.

Rapid emergence of temporal and pulvinar lesions in MELAS mimicking Creutzfeldt-Jakob disease

Hyperintense areas in the pulvinar in fluid-attenuated inversion recovery images and greater hyperintensity in cortical areas in DWI are typical of sporadic Creutzfeldt-Jacob disease (sCJD).1 A 59-year-old woman developed confusion, progressive aphasia, mutism, and fluctuations of vigilance within 2 weeks. MRI revealed abnormalities consistent with sCJD (figure). CSF showed normal cell counts, negative PCR for HSV, elevated lactate (4.6 mmol/L), and increased levels of 14-3-3 and tau protein (1,300 pg/L). There were no periodic sharp-wave complexes on EEG recordings. Magnetic resonance spectroscopy revealed a lactate signal indicative …

Analysis of Gene Expression in White Blood Cells of Cattle Orally Challenged with Bovine Amyloidotic Spongiform Encephalopathy

Bovine amyloidotic spongiform encephalopathy (BASE) is one of the recently discovered atypical forms of BSE, which is transmissible to primates, and may be the bovine equivalent of sporadic Creutzfeldt–Jacob disease (CJD) in humans. Although it is transmissible, it is unknown whether BASE is acquired through infection or arises spontaneously. In the present study, the gene expression of white blood cells (WBCs) from 5 cattle at 1 yr after oral BASE challenge was compared with negative controls using a custom microarray containing 43,768 unique gene probes. In total, 56 genes were found to be differentially expressed between BASE and control animals with a log fold change of 2 or greater. Of these, 39 were upregulated in BASE animals, while 17 were downregulated. The majority of these genes are related to immune function. In particular, BASE animals appeared to have significantly modified expression of genes linked to T- and B-cell development and activation, and to inflammatory responses. The potential impacts of these gene expression changes are described.

Diffusion-weighted MRI for Differentiating Creutzfeldt-Jacob Disease Mimics

Sporadic Creutzfeldt-Jacob disease (CJD) is a rare neurodegenerative, prion disease characterized by rapidly progressive dementia, visual disturbances, myoclonus and extrapyramidal and pyramidal involvement. An 80-year-old woman presented with progressive dementia and visual and auditory hallucinations over a two-month period. Neurological examination revealed cognitive impairment and right hemiparkinsonism. Diffusion-weighted MR imaging (DWI) revealed high intensity lesions in the left putamen, caudate and cerebral cortex (Picture 1A). TC-ECD SPECT images showed hypoperfusion in the left fronto-temporal cortex and basal ganglia (Picture 1B). Cerebrospinal fluid (CSF) examination revealed no pleocytosis but showed increased neuronspecific enolase levels and positive 14-3-3 protein. Electroencephalography results showed diffuse slow waves with periodic discharges lateralized to the left hemisphere. The diagnosis of probable CJD was made based on clinical manifestations and CSF and imaging findings (1). Because CJD can present with various neurologic signs owing to differences in brain involvement and disease progression, nonconvulsive status epilepticus, encephalopathy, and other neurodegenerative diseases, especially in the early phase, can mimic CJD (2). The presence of hallucination with asymmetric parkinsonism initially suggested dementia with Lewy bodies or corticobasal degeneration. In the study using DWI, the value of apparent diffusion coefficient maps can be useful for the diagnosis of atypical parkinson syndrome (3); however, the findings that high signal intensity lesions observed in striatal and caudate in addition to diffuse cortical cortex on DWI strongly suggested CJD. Moreover,

Emerging Patterns of Diffusion, Perfusion-Weighted MRI and Spectroscopy in Creutzfeldt-Jacob Disease

Sporadic Creutzfeldt-Jacob disease (CJD) is a transmissible, progressive, fatal spongiform encephalopathy. Routine MR imaging sequences may show abnormalities in the basal ganglia and cerebral cortex. Recently, several reports claimed that diffusion weighted MRI (DWI) could demonstrate early brain lesions in CJD patients when conventional MR images are normal on T2-weighted sequences. We evaluated the usefulness of DWI, perfusion-weighted MRI (PWI) and spectroscopy to confirm the clinical diagnosis and assess lesion progression in two patients with suspected CJD. We noted a diffuse hypoperfusion in the basal ganglia where ADC values were reduced but spectroscopy values were normal. A strong hypoperfusion was observed in the right head of the caudate nucleus in patient n° 2 where spectroscopy values were abnormal. A typical distribution of hypoperfusion followed the posterior progression of disease. We suggest the hypoperfusion in the areas presenting restricted diffusion probably reflects spongiform degeneration and moderate mass effects from cytotoxic edema.