Sensory disturbances in Creutzfeldt-Jakob disease.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease characterized by rapidly progressive dementia, motor impairments, and psychiatric symptoms. Sensory disturbances were occasionally reported as well. The study aims to describe the sensory symptoms of the disease. METHODS: The CJD Israeli National Database was screened for patients who presented sensory symptoms throughout the disease course. Symptoms, characteristics, and distribution were reviewed and the demographic and clinical data (sex, etiologies of the disease, age of onset, disease duration, neurological exam finding, tau protein level, EEG and MRI findings) were compared with the demographics and clinical data of CJD without sensory symptoms. Then, the patients with sensory symptoms were divided into patients with symptom distribution consistent with peripheral nervous system (PNS) involvement and central nervous system (CNS) involvement. The demographics and clinical data of the 2 groups were compared. RESULTS: Eighty-four CJD patients with sensory symptoms and 645 CJD patients without sensory symptoms were included in the study. Sensory symptoms were more common in genetic E200K CJD patients (14.6% vs. 5.6% respectively, p = 0.0005) (chi-squared test). Numbness and neuropathic pain were the most common symptoms and distribution of symptoms of "stocking gloves" with decreased deep tendon reflexes suggesting peripheral neuropathy in 44% of the patients. In these patients, the classical EEG findings of Periodic Sharp Wave Complexes were less often found (58% vs. 22%, p = 0.02) (chi-squared test). CONCLUSIONS: Sensory symptoms are more common in E200K patients and often follow peripheral neuropathy distribution that suggests PNS involvement.

Personalized brain MRI revealed distinct functional and anatomical disruptions in Creutzfeldt-Jakob disease and Alzheimer's disease.

AIMS: Creutzfeldt-Jakob disease (CJD) is a lethal neurodegenerative disorder, which leads to a rapidly progressive dementia. This study aimed to examine the cortical alterations in CJD, changes in these brain characteristics over time, and the differences between CJD and Alzheimer's disease (AD) that show similar clinical manifestations. METHODS: To obtain reliable, subject-specific functional measures, we acquired 24 min of resting-state fMRI data from each subject. We applied an individual-based approach to characterize the functional brain organization of 10 patients with CJD, 8 matched patients with AD, and 8 normal controls. We measured cortical atrophy as well as disruption in resting-state functional connectivity (rsFC) and then investigated longitudinal brain changes in a subset of CJD patients. RESULTS: CJD was associated with widespread cortical thinning and weakened rsFC. Compared with AD, CJD showed distinct atrophy patterns and greater disruptions in rsFC. Moreover, the longitudinal data demonstrated that the progressive cortical thinning and disruption in rsFC mainly affected the association rather than the primary cortex in CJD. CONCLUSIONS: CJD shows unique anatomical and functional disruptions in the cerebral cortex, distinct from AD. Rapid progression of CJD affects both the cortical thickness and rsFC in the association cortex.

Rapidly progressive dementia due to intravascular lymphoma: A prion disease reference center experience.

BACKGROUND: Intravascular large B-cell lymphoma (IVLBCL) is a rare extranodal lymphoma that is characterized by the selective growth of neoplastic cells in blood vessels, representing a potentially treatable cause of rapidly progressive dementia (RPD). Given its diverse clinical and instrumental presentation, it is often misdiagnosed with more common RPD causes, for example, Creutzfeldt-Jakob disease (CJD) or vascular dementia. METHODS: This study presents the clinical and histopathological characteristics of four IVLBCL cases that we diagnosed post-mortem over 20 years among over 600 brain samples received as suspected CJD cases at our prion disease reference center. RESULTS: Our patients exhibited various presenting symptoms, including behavioral disturbances, disorientation, and alertness fluctuations. The diagnostic tests performed at the time, including blood work, cerebrospinal fluid (CSF) analyses, electroencephalography, and neuroimaging, yielded nonspecific and occasionally misleading results. Consequently, the patients were repeatedly diagnosed as variably having CJD, epilepsy, vascular dementia, and encephalitis. The stored CSF samples of two patients tested negative at prion real-time quaking-induced conversion (RT-QuIC), which we performed afterwards for research purposes. Neuropathological analysis revealed a differential involvement of various brain areas, with frontotemporal neocortices being the most affected. CONCLUSIONS: Our results confirm the significant clinical and instrumental heterogeneity of IVLBCL. Neuropathological evidence of the preferential involvement of frontotemporal neocortices, potentially conditioning the clinical phenotype, could be relevant to reach an early diagnosis. Finally, given the therapeutic implications of its misdiagnosis with CJD, we emphasize the utility of prion RT-QuIC as a test for ruling out CJD in these patients.

Diagnostic challenge of Creutzfeldt-Jakob disease in a patient with multimorbidity: a case-report.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities. CASE PRESENTATION: We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors. CONCLUSIONS: The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.

Anti-recoverin antibody positive Heidenhain variant CJD: a case report.

The Heidenhain variant Creutzfeldt-Jakob disease (CJD) is characterized by isolated visual symptoms at disease onset, which may mimic numerous ophthalmological disorders. Anti-recoverin autoantibody can be found in patients with autoimmune-related retinopathies. The presence of this antibody with visual symptoms might be confusing in the early stages of the Heidenhain variant CJD. We describe the first case of an anti-recoverin antibody found in the Heidenhain variant CJD who presented with progressive blurred vision then memory deterioration proceeded later. This presentation reinforces the concept that the presence of the anti-recoverin antibody could not exclude the possibility of the Heidenhain variant of CJD in highly suspicious patients with initial isolated visual disturbance.

Creutzfeldt-Jakob disease with dizziness initially presenting to the otolaryngology department.

Creutzfeldt-Jakob disease is a fatal transmissible prion disease of the central nervous system. Dizziness as an initial manifestation of Creutzfeldt-Jakob disease is rare. However, patients with Creutzfeldt-Jakob disease and dizziness may initially visit the otolaryngology department, but this is uncommon. We report the case of a 56-year-old woman with Creutzfeldt-Jakob disease who initially presented with dizziness as an emergency patient to the otolaryngology department. Primary position upbeat nystagmus was identified using a charge-coupled device camera with infrared illumination. Electronystagmography revealed impaired smooth pursuit and diminished optokinetic nystagmus. Based on these findings, we immediately suspected an intracranial cause of dizziness and reached a presumptive diagnosis of sporadic Creutzfeldt-Jakob disease, thus preventing severe transmission. This case emphasizes that Creutzfeldt-Jakob disease should be included as a differential diagnosis for patients with dizziness and abnormal eye movements, such as primary position upbeat nystagmus, which might be caused by intracranial disease.

Rapidly evolving Creutzfeldt-Jakob disease in COVID-19: from early status epilepticus to fatal outcome.

We report the case of a 70-year-old man coming to our attention for new onset refractory status epilepticus (NORSE) in a rapidly evolving CJD during SARS-CoV-2 co-infection. Our case report describes a fulminant CJD evolution associated with SARS-CoV-2 infection, which led to patient death after 15 days from admission. First EEG presented continuous diffuse spikes, sharp waves and sharp-and-slow wave complexes, pattern consistent with a non-convulsive status epilepticus (NORSE). Our case supports how CJD with SARS-CoV-2 co-infection could be characterized by an accelerated evolution, as already hypothesize for others microorganism infections, and how the diagnosis might be more challenging due to its uncommon presentations, such as NORSE.

Right Brain: The Purple Scarf and the Cortical Ribbon.

A patient with probable Creutzfeldt Jakob disease (CJD) who was previously a high-functioning financial analyst remains fiercely independent despite her family's concerns about her safety. As a trainee with limited experience in leading these difficult conversations, this neurology resident describes her experience reconciling the viewpoints of herself, the patient, and her family. She reflects on the ability to reframe this delicate conversation from one of loss of independence in a patient with a rapidly progressive, neurodegenerative condition to one of safety, security, and the care of her family.

18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom.

Creutzfeldt-Jakob disease (CJD) is a low-prevalence, fatal neurodegenerative disease. Parkinsonism as first symptom of CJD is rare. We present a case manifesting difficulty falling asleep as unspecific prodromal symptom and parkinsonism as initial symptom. The patient received positron emission tomography/computed tomography (PET/CT) of dopamine transporter (DAT) using 18 F-FP-CIT. The DAT-scan demonstrated presynaptic dopaminergic deficit in bilateral posterior putamen, which supports the hypothesis of nigrostriatal pathway dysfunction in CJD.

[A case of Creutzfeldt-Jakob disease presenting with nonconvulsive status epilepticus in the early stages].

A 64-year-old Japanese woman presented with 1 week of recurrent convulsive seizures. At the time of admission, she was in a coma and did not present with convulsions. Intravenous diazepam administration improved her consciousness, although severe psychomotor excitement developed. Brain MRI demonstrated diffusion restriction in the cerebral cortex of the right hemisphere. Electroencephalography (EEG) showed periodic discharges centered around the parietal regions with right-sided dominance. Nonconvulsive status epilepticus (NCSE) was suspected, and the patient was actively treated with anti-epileptic drugs. She developed akinetic mutism and generalized myoclonus 1 month after admission. Follow-up EEG studies disclosed periodic synchronous discharges. Abnormal prion protein in the cerebral fluid was detected using a real-time quaking-induced conversion assay. The clinical diagnosis in the present case was sporadic Creutzfeldt-Jakob disease (CJD). Seizures as an initial symptom in patients with CJD are relatively rare. Our case suggests that CJD should be considered as a differential diagnosis when a patient presents with refractory NCSE.

Non-convulsive Seizures Mimicking Creutzfeldt-Jakob Disease with Rapid Resolution and Recurrence of MRI Abnormalities.

An 88-year-old man presented with acute altered mental status. Brain magnetic resonance imaging (MRI) demonstrated "cortical ribboning," which is classically associated with Creutzfeldt-Jakob disease. His rapid clinical improvement prompted a follow-up MRI three days after presentation, which showed resolution of the acute abnormal signals. The patient was eventually diagnosed with non-convulsive seizure. Five months later, he returned with a similar clinical presentation and MRI findings after self-discontinuation of anticonvulsant. It is important for clinicians to be aware that neurological changes associated with non-convulsive seizures can acutely mimic Creutzfeldt-Jakob disease, and to consider a short interval follow-up MRI for diagnostic challenges in acute settings.

[Creutzfeldt-Jakob Disease Versus Anti-NMDA Receptor Encephalitis A Case Report]. / Creutzfeldt-Jakob Erkrankung versus Anti-NMDA-Rezeptor-Enzephalitis ­ eine Kasuistik.

Clinically differentiating between autoimmune and neurodegenerative disorders can often pose a diagnostic challenge. The differential diagnosis of rapidly progressing neurological and cognitive symptoms includes central nervous system tumours, cerebral vasculitis, and inflammatory, autoimmune, or paraneoplastic encephalopathies. Rarer neurodegenerative diseases such as Creutzfeldt-Jakob disease should also be considered. Detection of treatable causes, such as autoimmune disorders, remains important when potentially occurring in conjunction with Creutzfeldt-Jakob disease. The following report describes a rare case in which autoimmune encephalopathy and prion disease were considered as possible comorbidities.

COVID-19-associated encephalitis or Creutzfeldt-Jakob disease: a case report.

Background: Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. Case presentation: We herein present a case of a 57-year-old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt-Jakob disease was made. Conclusion: A timely and accurate diagnosis of Creutzfeldt-Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.