Prion Disease

Baldwin, Kelly; Correll, Cynthia

doi:10.1055/s-0039-1687841

Cited by 52 publications

(45 citation statements)

References 75 publications

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“…Abnormal voluntary and involuntary movements are important findings to assist in the identification of patients with possible CJD. Myoclonus, cerebellar signs, pyramidal/extrapyramidal signs, and akinetic mutism are all components of the Center for Disease Control (CDC) diagnostic checklist [8]. Myoclonus, gait disturbances, ataxia, dysmetria, and rigidity were reported in 40%-80% of patients in one retrospective study [4].…”

Section: Discussionmentioning

confidence: 99%

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

Granger

Agarwal

Andino

et al. 2020

Cureus

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A 38-year-old male presented with a three-week history of bilateral lower extremity choreiform movements. History included sleep abnormalities, rushed and unintelligible speech, with delusions two to six months prior to presentation. He also developed mild dysphagia, staring spells, and anterograde amnesia. On examination, he had pressured speech, asynchronous cycling movements of the bilateral lower extremities persisting during sleep, occasional ballistic movements of the upper extremities, and ataxia. Magnetic resonance imaging (MRI) of the brain showed high cortical signal change in bilateral parieto-occipital cortices with evidence of medullary olive hypertrophy bilaterally. Electroencephalography showed generalized slowing without periodic spikes. Cerebrospinal fluid was positive for protein 14-3-3 and realtime quaking-induced conversion. Genetic testing was positive for autosomal dominant prion protein gene (PRNP) genetic mutation. The patient passed away three months after discharge. This case provides previously undescribed imaging and movement abnormalities in a patient with familial Creutzfeldt-Jakob disease (CJD), and suggests that CJD should not be removed from the differential in patients with these atypical findings.

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Section: Discussionmentioning

confidence: 99%

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

Granger

Agarwal

Andino

et al. 2020

Cureus

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“…Human genetic prion diseases are a group of dominate autosomal hereditary diseases associated with various point mutations or insertion/deletion of octapeptide within PrP protein encoding gene PRNP [1][2][3]. More than 50 different mutations have been described to be disease-associated, displaying clinical phenotypes and neuropathological changes such as Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS) and Fatal Familial Insomnia (FFI) [1,4,5].…”

Section: Introductionmentioning

confidence: 99%

A Chinese patient with the clinical features of Parkinson’s disease contains a single copy of octarepeat deletion in PRNP case report

Shi

Shen

Gao

et al. 2021

Prion

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Insertion or deletion of single copy of octapeptide repeat (OR) in human PrP protein are considered as polymorphism, while of insertions of more numbers of OR and deletion of two copies of OR are associated with genetic prion diseases.Here, we reported a 58-year-old female patient who displayed clinical manifestations of Parkinson's disease (PD) but contained deletion mutation of single copy of OR in one PRNP allele. The patient complained involuntary tremor of left upper limb for 18 months and her symptoms aggravation for 6 months at the time referring to Chinese National CJD surveillance system. The tremor was pronounced at rest, exacerbated by stress and disappear during sleep. Her symptoms were partially relieved after receiving medicament for PD. Neurological examination recorded involuntary movement of left hand and gear-like muscle tension of left upper limb. Coordination movement reported positive of Romberg sign and unstable in heel-keen test. EEG recorded a mild abnormality, but without periodic sharp wave complexes (PSWC). MRI showed a mild write matter demyelination. CSF protein 14-3-3 was negative. PRNP sequencing revealed heterozygosity of single copy deletion on ORs (R1-2-3-4/R1-2-2-3-4).No family history of neurodegenerative disease was recorded. Such case with a single copy of OR deletion in PRNP displaying the feature of PD is rarely reported in Chinese mainland.

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“…Cellular prion protein (PrP C ) is a cell surface GPI-anchored protein expressed in several tissues with high levels in the nervous system (Ford et al, 2002;Su et al, 2004), especially in neurons and glial cells (Adle-Biassette et al, 2006;Bribian et al, 2012;Lima et al, 2007;Moser et al, 1995). PrP C is known for its crucial role in the pathogenesis of human and animal prionopathies (Aguzzi, 2000;Baldwin and Correll, 2019;Prusiner and DeArmond, 1994). In these diseases, PrP C is transformed into a misfolded b-sheet-rich isoform, the infectious prion protein (PrP Sc ) (Prusiner and DeArmond, 1994).…”

Section: Introductionmentioning

confidence: 99%

Behavioral deficits, learning impairment, and enhanced hippocampal excitability in co-isogenic Prnp^ZH3/ZH3 mice

Matamoros‐Angles

Hervera

Soriano

et al. 2021

Preprint

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The cellular prion protein (PrPC) has been associated with numerous cellular processes, such as cell differentiation and neurotransmission. Moreover, it was recently demonstrated that some functions were misattributed to PrPC since results were obtained from mouse models with genetic artifacts. Here we elucidate the role of PrPC in the hippocampal circuitry and its related functions, like learning and memory, using the new strictly co-isogenic Prnp0/0 mouse. Behavioral and operant conditioning tests were performed to evaluate memory and learning capabilities. In vivo electrophysiological recordings were carried out at CA3-CA1 synapses in living behaving mice, and spontaneous neuronal firing and network formation were monitored in primary neuronal cultures of PrnpZH3/ZH3vs. wild-type mice. Results showed decreased motility, impaired operant conditioning learning, and anxiety-related behavior in PrnpZH3/ZH3 animals. PrPC absence enhanced susceptibility to high-intensity stimulations and kainate-induced seizures. However, long-term potentiation (LTP) was not enhanced in the PrnpZH3/ZH3 hippocampus. In addition, we observed a delay in neuronal maturation and network formation in PrnpZH3/ZH3 cultures. In conclusion, PrPC mediates synaptic function and protects the synapse from excitotoxic insults. Its deletion might evoke a susceptible epileptogenic brain that would fail to perform highly cognitive-demanding tasks such as associative learning and anxiety-like behaviors.

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Prion Disease

Cited by 52 publications

References 75 publications

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

A Chinese patient with the clinical features of Parkinson’s disease contains a single copy of octarepeat deletion in PRNP case report

Behavioral deficits, learning impairment, and enhanced hippocampal excitability in co-isogenic Prnp^ZH3/ZH3 mice

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Prion Disease

Cited by 52 publications

References 75 publications

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

Hypertrophic Olivary Degeneration and Movement Disorder in a Patient with Familial Creutzfeldt-Jakob Disease

A Chinese patient with the clinical features of Parkinson’s disease contains a single copy of octarepeat deletion in PRNP case report

Behavioral deficits, learning impairment, and enhanced hippocampal excitability in co-isogenic PrnpZH3/ZH3 mice

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Behavioral deficits, learning impairment, and enhanced hippocampal excitability in co-isogenic Prnp^ZH3/ZH3 mice