Brian S. Appleby
YOU?
Author Swipe
View article: Caregiver Burden in Prion Disease
Caregiver Burden in Prion Disease Open
Background: Caregiver burden significantly impacts patient and caregiver outcomes and is an important treatment consideration in dementia. Previous research has demonstrated that like behavioral variant frontotemporal dementia, prion disea…
View article: Mortality of individuals with antemortem genetic testing for <i>PRNP</i> variants in the United States, 1998-2024
Mortality of individuals with antemortem genetic testing for <i>PRNP</i> variants in the United States, 1998-2024 Open
Objectives To characterize the survival of individuals with pathogenic PRNP variants — including to estimate annual hazards, to judge the accuracy of previously reported retrospective survival data, and to evaluate the utility of public re…
View article: Development of a user guide to support administration of the MRC Prion Disease Rating Scale in research and clinical settings for prion diseases
Development of a user guide to support administration of the MRC Prion Disease Rating Scale in research and clinical settings for prion diseases Open
The final User Guide was designed to accompany the MRC Scale and assist with rater decisions related to which response option most accurately describes a patient's health status. Conclusions: The User Guide is expected to be a valuable com…
View article: Functional Connectivity Associations With Markers of Disease Progression in <i>GRN</i> Pathogenic Variant Carriers
Functional Connectivity Associations With Markers of Disease Progression in <i>GRN</i> Pathogenic Variant Carriers Open
Objective Autosomal dominant progranulin ( GRN ) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN ‐related therapies are underway, there is an unmet need for biomarkers that can p…
View article: Understanding brain donation decisions: Predictors of indecision and change over time from the Cleveland Alzheimer's Disease Research Center
Understanding brain donation decisions: Predictors of indecision and change over time from the Cleveland Alzheimer's Disease Research Center Open
INTRODUCTION Little is known about factors influencing indecision or changes in brain donation program (BDP) enrollment status among Alzheimer's disease and related dementias research participants. This study examined demographic features …
View article: Diagnostic Journey and Health Care Burden of Patients With Creutzfeldt-Jakob Disease in the United States
Diagnostic Journey and Health Care Burden of Patients With Creutzfeldt-Jakob Disease in the United States Open
[This corrects the article DOI: 10.1212/CPJ.0000000000200502.].
View article: Variably protease-sensitive prionopathy: mass spectrometry analysis of the pathogenic prion protein provides a new perspective
Variably protease-sensitive prionopathy: mass spectrometry analysis of the pathogenic prion protein provides a new perspective Open
View article: Search for a genetic cause of variably protease-sensitive prionopathy
Search for a genetic cause of variably protease-sensitive prionopathy Open
Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of PRNP non-coding regions on genomic DNA from autopsy-con…
View article: Diagnostic Journey and Health Care Burden of Patients With Creutzfeldt-Jakob Disease in the United States
Diagnostic Journey and Health Care Burden of Patients With Creutzfeldt-Jakob Disease in the United States Open
Study findings suggest that, in US clinical practice, patients with CJD present with one or more clinical symptoms affecting motor, cognitive, or other domains, and many alternative diagnoses are considered, which may prolong the diagnosti…
View article: Cadaveric Human Growth Hormone–Associated Creutzfeldt-Jakob Disease with Long Latency Period, United States
Cadaveric Human Growth Hormone–Associated Creutzfeldt-Jakob Disease with Long Latency Period, United States Open
We report a case of iatrogenic Creutzfeldt-Jakob disease (iCJD) after a 48.3-year incubation period in a patient treated with cadaveric human growth hormone. iCJD was pathologically confirmed; genetic analysis was negative for pathogenic m…
View article: Protein co-aggregates of dense core amyloid plaques and CSF differ in rapidly progressive Alzheimer’s disease and slower sporadic Alzheimer’s disease
Protein co-aggregates of dense core amyloid plaques and CSF differ in rapidly progressive Alzheimer’s disease and slower sporadic Alzheimer’s disease Open
View article: Internal consistency, construct validity, and responsiveness of the MRC Prion Disease Rating Scale
Internal consistency, construct validity, and responsiveness of the MRC Prion Disease Rating Scale Open
Background The Medical Research Council-Prion Disease Rating Scale (MRC-PDRS) is a 20-point clinician-reported outcome scale to assess disease progression in patients with prion disease, an invariably fatal neurodegenerative disease caused…
View article: Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia
Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia Open
INTRODUCTION Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of spora…
View article: Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia
Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia Open
INTRODUCTION Sex differences are apparent in neurodegenerative diseases but have not been comprehensively characterized in frontotemporal dementia (FTD). METHODS Participants included 337 adults with autosomal dominant FTD enrolled in the …
View article: Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders
Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders Open
View article: Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes Open
Prions are assemblies of misfolded prion protein that cause several fatal and transmissible neurodegenerative diseases, with the most common phenotype in humans being sporadic Creutzfeldt-Jakob disease (sCJD). Aside from variation of the p…
View article: Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival
Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival Open
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, rapidly progressive neurodegenerative disease resulting from an accumulation of misfolded prion proteins (PrP). CJD affects 1–2 new individuals per million each year, and the sporadic type …
View article: Psychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementia
Psychotropic medication usage in sporadic versus genetic behavioral‐variant frontotemporal dementia Open
INTRODUCTION Psychotropic medication (PM) use in behavioral‐variant frontotemporal dementia (bvFTD) is higher than in other dementias. However, no information exists on whether PM use differs between sporadic and genetic bvFTD. METHODS We …
View article: Search for a genetic cause of variably protease-sensitive prionopathy
Search for a genetic cause of variably protease-sensitive prionopathy Open
Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of PRNP non-coding regions on genomic DNA from autopsy-con…
View article: Clinical performance of plasma P‐tau217 for the identification of primary Alzheimer’s disease pathology or co‐pathology in sporadic frontotemporal dementia
Clinical performance of plasma P‐tau217 for the identification of primary Alzheimer’s disease pathology or co‐pathology in sporadic frontotemporal dementia Open
Background As new anti‐amyloid immunotherapies emerge for Alzheimer’s disease (AD), it is clear that early diagnosis of AD pathology is crucial for treatment success. This can be challenging in atypical presentations of AD and, together wi…
View article: Functional connectivity associations with markers of disease progression in <i>GRN</i> mutation carriers
Functional connectivity associations with markers of disease progression in <i>GRN</i> mutation carriers Open
Background Autosomal dominant progranulin ( GRN) mutations are a common genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN ‐related therapies are underway, there is an unmet need for biomarkers that can pred…
View article: A delayed diagnosis of a case with multiple system atrophy
A delayed diagnosis of a case with multiple system atrophy Open
Background A patient presented to movement disorder clinic with cognitive complaints, imbalance and prior diagnosis of NPH. The patient underwent ventriculoperitoneal shunt in the past with minimal improvement, a detailed history is sugges…
View article: Exacerbated mitochondrial dynamic abnormalities without evident tau pathology in rapidly progressive Alzheimer's disease
Exacerbated mitochondrial dynamic abnormalities without evident tau pathology in rapidly progressive Alzheimer's disease Open
Background Rapidly progressive Alzheimer's disease (rpAD) is a clinical subtype distinguished by its rapid cognitive decline and shorter disease duration. rpAD, like typical AD (tAD), is characterized by underlying neuropathology of amyloi…
View article: Characterization of variably protease-sensitive prionopathy by capillary electrophoresis
Characterization of variably protease-sensitive prionopathy by capillary electrophoresis Open
View article: Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study
Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study Open
BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia in individuals aged <65 years. Several challenges to conducting in-person evaluations in FTLD illustrate an urgent need to develop remote, accessible, and …
View article: <scp>FDG</scp>‐<scp>PET</scp> patterns associate with survival in patients with prion disease
<span>FDG</span>‐<span>PET</span> patterns associate with survival in patients with prion disease Open
Objective Prion disease classically presents with rapidly progressive dementia, leading to death within months of diagnosis. Advances in diagnostic testing have improved recognition of patients with atypical presentations and protracted di…
View article: Gene-Specific Effects on Brain Volume and Cognition of <i>TMEM106B</i> in Frontotemporal Lobar Degeneration
Gene-Specific Effects on Brain Volume and Cognition of <i>TMEM106B</i> in Frontotemporal Lobar Degeneration Open
We identified associations of TMEM106B with gray matter volume and cognition in the presence of GRN and C9orf72 pathogenic variants. The association of TMEM106B with outcomes of interest in presymptomatic GRN…
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: Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers
Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers Open
INTRODUCTION Cardiovascular health is important for brain aging, yet its role in the clinical manifestation of autosomal dominant or atypical forms of dementia has not been fully elucidated. We examined relationships between Life's Simple …
View article: Genome wide association study of clinical duration and age at onset of sporadic CJD
Genome wide association study of clinical duration and age at onset of sporadic CJD Open
Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration and age at onset. Genetic determinants of late o…