Diane Ritchie
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View article: The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype
The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype Open
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories…
View article: Inherited prion disease caused by a novel frameshift mutation of <i>PRNP</i> resulting in protein truncation at codon 157
Inherited prion disease caused by a novel frameshift mutation of <i>PRNP</i> resulting in protein truncation at codon 157 Open
Background PrP systemic amyloidosis is increasingly recognized as a novel inherited prion disease (IPD) syndrome caused by PRNP C-terminal truncating mutations. As well as systemic manifestations they cause gradually progressive cognitive …
View article: Pathological spectrum of sporadic Creutzfeldt–Jakob disease
Pathological spectrum of sporadic Creutzfeldt–Jakob disease Open
Human prion diseases are a rare group of transmissible neurodegenerative conditions which are classified according to their aetiology as sporadic, genetic or acquired forms. Creutzfeldt-Jakob disease (CJD) is the most common form of human …
View article: Characterization of Variably Protease-Sensitive Prionopathy by Capillary Electrophoresis
Characterization of Variably Protease-Sensitive Prionopathy by Capillary Electrophoresis Open
Variably Protease Sensitive Prionopathy (VPSPr) is a rare human prion disease that, like Creutzfeldt-Jakob disease (CJD), results in the deposition of abnormally folded prion protein aggregates in the brain and ultimate fatality. Neuropath…
View article: Enhanced <scp>Creutzfeldt‐Jakob</scp> disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease
Enhanced <span>Creutzfeldt‐Jakob</span> disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease Open
Human prion diseases, including Creutzfeldt‐Jakob disease (CJD), occur in sporadic, genetic, and acquired forms. Variant Creutzfeldt‐Jakob disease (vCJD) first reported in 1996 in the United Kingdom (UK), resulted from contamination of foo…
View article: Variant CJD: Reflections a Quarter of a Century on
Variant CJD: Reflections a Quarter of a Century on Open
Twenty-five years has now passed since variant Creutzfeldt-Jakob disease (vCJD) was first described in the United Kingdom (UK). Early epidemiological, neuropathological and biochemical investigations suggested that vCJD represented a new z…
View article: Fatal insomnia: the elusive prion disease
Fatal insomnia: the elusive prion disease Open
A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myocl…
View article: Novel Morphological Glial Alterations in the Spectrum of Prion Disease Types: A Focus on Common Findings
Novel Morphological Glial Alterations in the Spectrum of Prion Disease Types: A Focus on Common Findings Open
Human prion diseases are a group of rare fatal neurodegenerative diseases with sporadic, genetic, and acquired forms. They are neuropathologically characterized by pathological prion protein accumulation, neuronal death, and vacuolation. C…
View article: Prion Diseases: A Unique Transmissible Agent or a Model for Neurodegenerative Diseases?
Prion Diseases: A Unique Transmissible Agent or a Model for Neurodegenerative Diseases? Open
The accumulation and propagation in the brain of misfolded proteins is a pathological hallmark shared by many neurodegenerative diseases such as Alzheimer’s disease (Aβ and tau), Parkinson’s disease (α-synuclein), and prion disease (prion …
View article: Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes
Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes Open
In the human prion disease Creutzfeldt-Jakob disease (CJD), different CJD neuropathological subtypes are defined by the presence in normal prion protein (PrP C ) of a methionine or valine at residue 129, by the molecular mass of the infect…
View article: Study protocol for enhanced CJD surveillance in the 65+ years population group in Scotland: an observational neuropathological screening study of banked brain tissue donations for evidence of prion disease
Study protocol for enhanced CJD surveillance in the 65+ years population group in Scotland: an observational neuropathological screening study of banked brain tissue donations for evidence of prion disease Open
Introduction Creutzfeldt-Jakob disease (CJD) is a human prion disease that occurs in sporadic, genetic and acquired forms. Variant CJD (vCJD) is an acquired form first identified in 1996 in the UK. To date, 178 cases of vCJD have been repo…
View article: Issue Information
Issue Information Open
Canada & Mexico), €1234.00(Europe), £979.00 (UK), US$1914.00 (Rest of World).Prices are exclusive of tax.Asia-Pacific GST,
View article: Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges
Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges Open
Objective Comprehensively describe the phenotypic spectrum of sporadic fatal insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. Methods A survey among major prion disease reference centers in Eu…
View article: Detection of alpha‐synuclein conformational variants from gastro‐intestinal biopsy tissue as a potential biomarker for Parkinson's disease
Detection of alpha‐synuclein conformational variants from gastro‐intestinal biopsy tissue as a potential biomarker for Parkinson's disease Open
Aims Gastrointestinal ( GI ) α‐synuclein (aSyn) detection as a potential biomarker of Parkinson's disease ( PD ) is challenged by conflicting results of recent studies. To increase sensitivity and specificity, we applied three techniques t…
View article: Similarities of Variant Creutzfeldt-Jakob Disease Strain in Mother and Son in Spain to UK Reference Case
Similarities of Variant Creutzfeldt-Jakob Disease Strain in Mother and Son in Spain to UK Reference Case Open
We investigated transmission characteristics of variant Creutzfeldt-Jakob disease in a mother and son from Spain. Despite differences in patient age and disease manifestations, we found the same strain properties in these patients as in UK…
View article: Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG)
Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG) Open
Aging-related tau astrogliopathy (ARTAG) is a recently introduced terminology. To facilitate the consistent identification of ARTAG and to distinguish it from astroglial tau pathologies observed in the primary frontotemporal lobar degenera…
View article: UK Iatrogenic Creutzfeldt–Jakob disease: investigating human prion transmission across genotypic barriers using human tissue-based and molecular approaches
UK Iatrogenic Creutzfeldt–Jakob disease: investigating human prion transmission across genotypic barriers using human tissue-based and molecular approaches Open
Creutzfeldt-Jakob disease (CJD) is the prototypic human prion disease that occurs most commonly in sporadic and genetic forms, but it is also transmissible and can be acquired through medical procedures, resulting in iatrogenic CJD (iCJD).…
View article: Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature Open
Key Points Type I IFN therapies can cause a dose-dependent TMA. Recombinant type I IFN therapies should be stopped at the earliest opportunity in patients who develop TMA.
View article: Relative Abundance of apoE and Aβ1–42 Associated with Abnormal Prion Protein Differs between Creutzfeldt-Jakob Disease Subtypes
Relative Abundance of apoE and Aβ1–42 Associated with Abnormal Prion Protein Differs between Creutzfeldt-Jakob Disease Subtypes Open
Aggregated and protease-resistant mammalian prion protein (PrPSc) is the primary protein component of infectious prions. Enriched PrPSc preparations are often used to study the mechanisms that underly prion disease. However, most enrichmen…
View article: The Distribution of Prion Protein Allotypes Differs Between Sporadic and Iatrogenic Creutzfeldt-Jakob Disease Patients
The Distribution of Prion Protein Allotypes Differs Between Sporadic and Iatrogenic Creutzfeldt-Jakob Disease Patients Open
Sporadic Creutzfeldt-Jakob disease (sCJD) is the most prevalent of the human prion diseases, which are fatal and transmissible neurodegenerative diseases caused by the infectious prion protein (PrP(Sc)). The origin of sCJD is unknown, alth…