Creutzfeldt-Jakob Disease Presenting Research Articles

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.

To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease. We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description. Both patients exhibited gait disturbance and paresthesia. Electrodiagnostic studies revealed demyelinating abnormalities with motor conduction blocks suggestive of chronic inflammatory demyelinating polyradiculoneuropathy, with abnormal plexus MRI and elevated CSF protein levels. One of them had pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrPSc deposits in the peripheral nervous system, particularly in Schwann cells. Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.

Unusual Presentation of Creutzfeldt-Jakob Disease: A Case Report of Progressive Bulbar Symptoms with Unique Imaging Findings

Unusual Presentation of Creutzfeldt-Jakob Disease: A Case Report of Progressive Bulbar Symptoms with Unique Imaging Findings

Creutzfeldt-Jakob disease presenting as psychiatric disorder: case presentation and systematic review.

Creutzfeldt-Jakob disease (CJD) is a spongiform encephalopathy caused by misfolded human prion proteins (PrP)s. Due to variability in presentation, the diagnosis may be missed in lieu of various psychiatric disorders. Our study reports on a prototypical case and psychiatric mimic for CJD, and the workup used to establish the correct diagnosis. A 54-year-old male with a past medical history of traumatic brain injury and major depressive disorder presented with chest pain. During the hospital stay, he was found to be increasingly aggressive, and behaved out of character. Further review of clinical history revealed that the patient was diagnosed with cognitive impairment and depression one year prior. The patient was agitated, poorly redirectable, and had unstable gait on neurological examination. Magnetic resonance imaging (MRI) of the brain demonstrated restricted diffusion (DWI) along the parietooccipital and temporal regions (L > R) and in the subcortical structures, including the basal ganglia and thalami, with accompanying subtle fluid attenuation inversion recovery (FLAIR) hyperintense signal abnormality in these regions, deemed as artifactual at the time. Repeat MRI brain two months later demonstrated progression of the DWI signal with ADC correlate and FLAIR findings. Cerebrospinal fluid 14-3-3 and RT-QuIC samples were positive. Upon passing a few months later, brain autopsy and Western Blot confirmed the CJD diagnosis. Literature review was conducted on PubMed to identify CJD cases initially diagnosed as psychiatric disorder. Search terms included "CJD" or "Creutzfeldt-Jakob disease" with three common psychiatric diagnoses, "Depression," "Psychosis," and "Mania." Positive EEG, MRI, PET, and CSF (including protein 14-3-3 and tau) findings for CJD were found in 66.7, 81.1, 50, and 72.7% of cases, respectively. Overall, CJD can present as a psychiatric mimic. In suspicious cases, EEG, imaging, and CSF studies should be promptly utilized to arrive at the correct diagnosis. Repeated MRI imaging is often required to help in the diagnostic process. Brain biopsy should be considered in selected cases.

Creutzfeldt-Jakob Disease Presenting with Alien Hand.

Creutzfeldt-Jakob Disease Presenting with Alien Hand.

298 An atypical presentation of Creutzfeldt-Jakob Disease as a stroke mimic—experience from an Irish tertiary centre

Abstract Background Sporadic Creutzfeldt-Jakob Disease (sCJD) is a rare neurodegenerative prion disease that presents with symptoms of rapid neuropsychiatric decline including dementia, behavioural abnormalities and loss of higher cortical function. Patients commonly present with rapidly-progressive neuromotor symptoms such as ataxia and myoclonus. Very few cases of CJD have been reported in which the patient initially presents with stroke symptoms such as hemiparesis as their primary presenting symptom. We present a case of a 56 year old male who initially presented to the stroke unit with waxing and waning left sided weakness and a non-corresponding ipsilateral left-sided acute parietal infarct on diffusion-weighted MRI. Over four weeks, his condition progressively worsened with declining cognitive function, motor dysfunction, sphincter dysfunction and eventual death. Methods Methods used to confirm the suspected diagnosis included: (1) Periodic sharp wave complexes are the most classical EEG finding for CJD and are seen in two third of the patients diagnosed with sporadic CJD, (2) The presence of the 14–3-3 protein in CSF has been found to be a sensitive and specific marker for sporadic CJD, (3) Neuroimaging plays a vital role in the diagnosis of CJD including serial MRIs and EEG sufficient to exclude other differential diagnoses. Results MRI brain revealed an acute cortical infarct within left parietal lobe measuring 3 mm.A n EEG demonstrated periodic sharp wave complexes occurring maximally in the left centro-temporal region. EEG finding was suggestive of a diagnosis of a prion disease. CJD Surveillance Unit confirmed the cerebrospinal fluid analysis was positive for RT-QuIC indicating sporadic CJD. Conclusion In cases of patients presenting with clinical signs and symptoms of a stroke with subsequent ipsilateral neurological findings on MRI, CJD should be included as a differential diagnosis. Additionally, a lumbar puncture, not routinely recommended in stroke patients, should be performed early to aid in early detection of CJD in order to confirm diagnosis and optimise the ceiling of care.

Unusual Presentations Accentuating the Diagnostic Confusion of CJD (P2-6.010)

<h3>Objective:</h3> To report an unusual case of Creutzfeldt-Jakob Disease (CJD) presenting with worsening extrapyramidal symptoms preceding the onset of cognitive dysfunction. <h3>Background:</h3> CJD is a fatal progressive neurodegenerative disease mediated by misfolded proteins or prions. While definitive diagnosis requires histopathological confirmation, diagnostic criteria exist to predict the disease antemortem. However, only a few patients with CJD meet all components of this criteria. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A 71-year-old healthy female presented with 2-months of recurrent falls and intermittent jerking of left arm and leg that started 5 days after her COVID-19 vaccine booster. At baseline she lives by herself and can manage her 10-acre property. On exam, she has appropriate mood, intact cognition, and orientation. Speech was dysarthric and was rigid in all muscle groups associated with hyperreflexia. The intermittent left hemibody jerking was consistent with focal myoclonus associated with spike and wave discharges on EEG. Brain magnetic resonance imaging (MRI) showed increased signal in the bilateral caudate, putamen, medial thalami, and right cerebral cortex on diffusion-weighted imaging. Cerebrospinal fluid (CSF) analysis showed normal cell count, protein and negative for autoimmune/paraneoplastic antibodies. While in the hospital over a few weeks her symptoms progressed to akinetic mutism, and she developed cognitive dysfunction. Real-time Quaking Induced Conversion (RT-QuIC), T-tau protein, and 14-3-3 protein ultimately resulted positive on CSF confirming diagnosis of CJD. She was discharged home with palliative care. <h3>Conclusions:</h3> Unusual presentations in a rare fatal condition like CJD can mimic many other neurological conditions at presentation. This can pose challenges in diagnosis and providing the prognosis to the caregivers. <b>Disclosure:</b> Mrs. Weeks has nothing to disclose. Dr. Mannyam has nothing to disclose. Dr. Bhatti has nothing to disclose. Dr. Gunturu has nothing to disclose.

A rare case of Creutzfeldt–Jakob Disease Presenting with Ataxic Gait and Dystonia of the Forehead

A rare case of Creutzfeldt–Jakob Disease Presenting with Ataxic Gait and Dystonia of the Forehead

Clinical and radiological presentation of Creutzfeldt-Jakob disease

Clinical and radiological presentation of Creutzfeldt-Jakob disease

The Various Faces of Creutzfeldt-Jakob Disease (CJD); a Case of CJD Presenting as Psychosis in a Middle-Aged Woman

AimsCreutzfeldt-Jakob disease (CJD) is a rare, progressive, fatal neurodegenerative disorder caused by an abnormal glycoprotein known as the prion protein. The core features include progressive cognitive decline, cerebellar dysfunction, personality changes, and visual disturbances. Although psychiatric symptoms are rare, they can be the primary symptom of CJD, and such presentations can pose diagnostic difficulties. In this paper, we describe the case of Ms. R, who manifested psychotic symptoms as the first signs of CJD.MethodsMs. R, was a 49-year-old white British female not previously known to psychiatric services, who presented with acute onset of florid psychotic symptoms. Her symptoms included auditory hallucinations, paranoia, and thought disorder. She was treated with antipsychotics for over four weeks, following her admission, but no improvement was seen. Instead, her psychosis worsened with cognitive decline, mutism, and the appearance of neurological symptoms such as jerky body movement, ataxia, and falls. All screening blood tests, chest X-ray, and CT abdomen were normal. The MRI, however revealed few patches of high T2/FLAIR signal in the deep white matter. Cerebrospinal fluid showed increased protein. Neurologist reviews suggested the possibility of sporadic CJD (sCJD) as a probable diagnosis. As her condition deteriorated, she became comatose and died four months after the appearance of the first psychiatric symptoms.ResultsIt can be challenging to diagnose CJD since the clinical picture overlaps with other neuropsychiatric and neurodegenerative conditions. It requires the presence of relevant clinical findings along with positive CSF, EEG, or MRI findings to make a probable diagnosis. Regarding our case, some noteworthy observations were psychosis as the initial symptom, relatively delayed onset of neurological signs, rapid deterioration with brief duration of illness. The MRI findings were typical of those seen in sCJD, although the EEG did not suggest sCJD. A differential of variant CJD was considered because of her age, prominent psychiatric symptoms, and delayed neurological signs.ConclusionCreutzfeldt-Jakob disease course is rapidly progressive, and majority of patients die within one year. Therefore, awareness of early clinical features is of great significance. Among other things, this would enable patients and their families time to understand the nature of CJD, prognosis and prepare advanced directives. This case adds to the growing number of atypical presentation of CJD as well as pointing to an expanding spectrum of the disease. Therefore, clinicians should consider CJD in the differential diagnosis of new-onset psychosis, particularly if symptoms persist and worsen despite standard psychiatric treatment.

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-Jakob Disease Presenting with Rapidly Progressing Dementia – A Family Medicine Perspective of Two Case Reports

Dementia is an increasing problem in Singapore’s ageing population with the most common being Alzheimer’s disease, vascular dementia, and mixed dementia. Creutzfeldt-Jakob Disease (CJD) is a fatal neurodegenerative condition that causes rapidly progressive dementia. It is a rare human transmissible prion disease with limited literature in Southeast Asia. In this article, we report 2 patients diagnosed with CJD who presented to primary care with rapidly progressive dementia, behavioral changes, and rapid functional decline. Deterioration of their clinical condition was relentless, and treatment remained palliative and supportive. It is important for family physicians to be cognisant of the clinical manifestations of CJD. We will outline the role of family physicians in the management of patients with CJD in different healthcare settings – general practice, tertiary hospital, community hospital and hospice home care.

Three cases of Creutzfeldt-Jakob disease presenting with a predominant dysexecutive syndrome.

Creutzfeldt-Jakob disease (CJD) is a rare, uniformly fatal prion disease. Although CJD commonly presents with rapidly progressive dementia, ataxia, and myoclonus, substantial clinicopathological heterogeneity is observed in clinical practice. Unusual and predominantly cognitive clinical manifestations of CJD mimicking common dementia syndromes are known to pose as an obstacle to early diagnosis and prognosis. We report a series of three patients with probable or definite CJD (one male and two females, ages 52, 58 and 68) who presented to our tertiary behavioral neurology clinic at Mayo Clinic Rochester that met criteria for a newly defined progressive dysexecutive syndrome. Glucose hypometabolism patterns assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) strongly resembled those of dysexecutive variant of Alzheimer's disease (dAD). However, magnetic resonance imaging (MRI) demonstrated restricted diffusion in neocortical areas and deep nuclei, while cerebrospinal fluid biomarkers indicated abnormal levels of 14-3-3, total-tau, and prion seeding activity (RT-QuIC), establishing the diagnosis of CJD. Electroencephalogram (EEG) additionally revealed features previously documented in atypical cases of CJD. This series of clinical cases demonstrates that CJD can present with a predominantly dysexecutive syndrome and FDG-PET hypometabolism typically seen in dAD. This prompts for the need to integrate information on clinical course with multimodal imaging and fluid biomarkers to provide a precise etiology for dementia syndromes. This has important clinical implications for the diagnosis and prognosis of CJD in the context of emerging clinical characterization of progressive dysexecutive syndromes in neurodegenerative diseases like dAD.

PSYCHOSIS AS AN UNUSUAL BEGIN OF CREUTZFELDT – JAKOB

Creutzfeldt - Jakob disease (CJD) is an extremely rare and devastating disease characterized by rapid neurological deterioration in a healthy individual. The classic clinical presentation of CJD includes rapidly progressive dementia, myoclonus, pyramidal, extrapyramidal and cerebellar signs. Although it is less frequent that the disease begin with non-specific psychiatric signs.

Case Report of Creutzfeldt-Jakob Disease Presenting as Agraphia (2531)

Case Report of Creutzfeldt-Jakob Disease Presenting as Agraphia (2531)

Creutzfeldt–Jakob disease in the Republic of Sakha (Yakutia)

Creutzfeldt–Jakob disease (CJD) is a rare neurodegenerative disease caused by the accumulation of the pathological isoform of prion protein. The classic clinical presentation of CJD is characterized by rapidly progressive dementia, ataxia, myoclonus, and akinetic mutism at the terminal stage of the disease. Of the instrumental techniques, brain magnetic resonance imaging plays a leading role in clinical practice. The authors followed up 4 patients with probable CJD in the Republic of Sakha (Yakutia) in 2014 to 2019. All the patients had approximately the same age (50–60 years) at disease onset and onset with non-specific cerebral symptoms. However, the subsequent development of rapidly progressive dementia and other characteristic features might suggest CJD. The patients were found to have characteristic neuroimaging signs as hyperintensity of the caudate nuclei and pulvinars in the fluid-attenuated inversion recovery (FLAIR) and diffusion weighted imaging (DWI) modes to form the typical signal of hockey sticks, as well as hyperintensity of the gray matter in the DWI mode (the symptom of the «Venus necklace»). In 3 patients, the disease ended fatally within a year of its onset. The fourth patient with a disease duration of 6 months is being supervised at home. The authors reason that the diagnosis of CJD is now insufficient due to the similarity of its clinical symptoms at the onset with other disorders, including cerebrovascular and neurodegenerative diseases.

Clinical Presentation of Sporadic Creutzfeldt-Jakob Disease in Han-Chinese.

The clinical presentation in Chinese patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be unique due to the big difference in the codon 129 polymorphism of the prion protein gene (PRNP). This study retrospectively reviewed 26 cases of sCJD diagnosed in a single center in recent years. All 26 sCJD patients received brain magnetic resonance imaging scan, cerebrospinal fluid 14-3-3 protein detection, electroencephalogram, and PRNP gene screening. The codon 129 polymorphism were all homozygous MM in 26 sCJD patients. The main onset symptoms of sCJD patients were rapidly progressive dementia, visual impairment, and cerebellar ataxia. At the time of diagnosis, the incidence of myoclonus and akinetic mutism were relatively low (<50%). For auxiliary examinations, the positive rate of the typical magnetic resonance imaging (MRI) abnormalities, cerebrospinal fluid 14-3-3 protein, and electroencephalogram-periodic sharp wave complex was 96%, 64%, and 50%, respectively. As MM genotype is dominant and brain MRI is sensitive, brain MRI seems to play a major role in diagnosis of sCJD in Chinese.

Diagnostic Challenge: Sporadic Creutzfeldt-Jakob Disease (sCJD) Presenting with Isolated Visual Symptoms (P5.9-018)

Diagnostic Challenge: Sporadic Creutzfeldt-Jakob Disease (sCJD) Presenting with Isolated Visual Symptoms (P5.9-018)

A Case of Heidenhain Variant Creutzfeldt-Jakob Disease Presenting with Isolated Homonymous Quadrantanopia and Corresponding Nuclear Imaging Findings (P1.9-020)

A Case of Heidenhain Variant Creutzfeldt-Jakob Disease Presenting with Isolated Homonymous Quadrantanopia and Corresponding Nuclear Imaging Findings (P1.9-020)

Reader response: Teaching NeuroImages: DWI and EEG findings in Creutzfeldt-Jakob disease.

We read with interest the Resident & Fellow Teaching NeuroImage by Ganesh et al.1 of a patient with Creutzfeldt-Jakob disease (CJD) presenting with rapidly progressive dementia, predominant clinical features, MRI findings of hyperintensity of the cortex and bilateral basal ganglia, and EEG (triphasic morphology). We agree with the diagnosis according to the updated clinical diagnostic criteria for sporadic CJD.2 However, it is important to provide the data on whether this patient underwent biopsy for neuropathology or if 14-3-3 protein was detected in the CSF, in order to distinguish from familial, new variant, or iatrogenic CJD. The evidence-based guideline with Level B recommendations indicated that, for patients who have rapidly progressive dementia and are strongly suspected of having sporadic CJD (sCJD), the assays for CSF 14-3-3 protein are probably moderately accurate in diagnosing sCJD.3 Despite the unavailable biopsy, the detection of protease-resistant prion by neuropathology could be helpful to the diagnosis of definite sCJD. Further studies are needed to confirm the 2015 updated diagnostic criteria for CJD in clinical practice.4

Creutzfeldt-Jakob Disease Presenting with Dementia and Mimic a Stroke During One Year: Case Report and Review of Literatures

Background: Creutzfeldt-Jakob disease (CJD) is a progressive and fatal prion disease in human and its annual incidence is estimated one per million. Sporadic form of CJD is the most common form of the disease that involved 85% of cases. Case Report: We presented two cases of CJD with the different clinical presentation; a 58-year-old woman who referred with amnesia, depression and a 59-year-old woman with ataxia as her chief complaint. Based on the findings and roled-out the other differential diagnosis, the CJD was confirmed. Both of them died before 12 months after diagnosis. Conclusion: Although CJD is a rare disease with different clinical manifestation, it is considered as one the differential diagnosis of progressive dementia.[GMJ.2019;8:e1357]Â &#x0D; Â