Christopher D. Stephen
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View article: Correction: The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA)
Correction: The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA) Open
View article: Functional Connectivity Gradients Reveal Altered Hierarchical Cortical Organization in Functional Neurological Disorder
Functional Connectivity Gradients Reveal Altered Hierarchical Cortical Organization in Functional Neurological Disorder Open
View article: Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. Open
The landscape of genetic ataxias is influenced by migration, population genetics, consanguinity, and founder effects, resulting in significant regional variation. Within the expanding domain of genetic ataxias, knowledge of regional epidem…
View article: Language impairment is associated with faster progression in progressive supranuclear palsy‐Richardson syndrome
Language impairment is associated with faster progression in progressive supranuclear palsy‐Richardson syndrome Open
INTRODUCTION Cognitive impairment is common but often overlooked due to motor symptoms in progressive supranuclear palsy‐Richardson syndrome (PSP‐RS). This study investigates whether cognitive deficits predict disease progression in PSP‐RS…
View article: Functional Connectivity Gradients Reveal Altered Hierarchical Cortical Organization in Functional Neurological Disorder
Functional Connectivity Gradients Reveal Altered Hierarchical Cortical Organization in Functional Neurological Disorder Open
Background Neuroimaging studies of functional neurological disorder (FND), a condition at the intersection of psychiatry and neurology, often rely on discrete connections or parcellations that may obscure the brain’s functional network arc…
View article: Editorial: Digital biomarkers in movement disorders
Editorial: Digital biomarkers in movement disorders Open
View article: At-home wearables and machine learning capture motor impairment and progression in adult ataxias
At-home wearables and machine learning capture motor impairment and progression in adult ataxias Open
A significant barrier to developing disease-modifying therapies for spinocerebellar ataxias (SCAs) and multiple system atrophy of the cerebellar type (MSA-C) is the scarcity of tools to measure disease progression sensitively in clinical t…
View article: Social determinants of health and health-related quality of life in individuals with isolated dystonia
Social determinants of health and health-related quality of life in individuals with isolated dystonia Open
Background and objectives Dystonia is the third most common movement disorder. Motor and non-motor manifestations of dystonia may impact Health Related Quality of Life (HRQoL), with lower HRQoL scores compared to the healthy population. Pe…
View article: Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia
Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia Open
Background The Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally. Objective We aimed to validate PROM‐Ataxia as a measure of patient experience of disease over time, examin…
View article: Contrastive Learning Model for Wearable-based Ataxia Assessment
Contrastive Learning Model for Wearable-based Ataxia Assessment Open
Objective Frequent and objective assessment of ataxia severity is essential for tracking disease progression and evaluating the effectiveness of potential treatments. Wearable-based assessments have emerged as a promising solution. However…
View article: A digital measure of eye movements during reading sensitively captures oculomotor and speech dysfunction, early changes, and disease progression in ataxias
A digital measure of eye movements during reading sensitively captures oculomotor and speech dysfunction, early changes, and disease progression in ataxias Open
Objective Sensitive behavioral measures are needed for clinical trials in ataxias and other neurodegenerative diseases. We hypothesized that quantitative analysis of eye movements during a natural multi-component task (passage reading) cou…
View article: Delineating network integration and segregation in the pathophysiology of functional neurological disorder
Delineating network integration and segregation in the pathophysiology of functional neurological disorder Open
Functional neurological disorder (FND) is a neuropsychiatric condition that is framed as a multi-network brain problem. Despite this conceptualization, studies have generally focused on specific regions or connectivity features, under-char…
View article: Multimodal Digital Phenotyping of Behavior in a Neurology Clinic: Development of the Neurobooth Platform and the First Two Years of Data Collection
Multimodal Digital Phenotyping of Behavior in a Neurology Clinic: Development of the Neurobooth Platform and the First Two Years of Data Collection Open
Quantitative analysis of human behavior is critical for objective characterization of neurological phenotypes, early detection of neurodegenerative diseases, and development of more sensitive measures of disease progression to support clin…
View article: Montreal cognitive assessment as a cognitive outcome measure in progressive supranuclear palsy
Montreal cognitive assessment as a cognitive outcome measure in progressive supranuclear palsy Open
Background The Montreal Cognitive assessment (MoCA) is a well-validated global cognitive screening instrument. Its validity in progressive supranuclear palsy (PSP) has not been assessed. Objectives To evaluate the MoCA as an outcome measur…
View article: Language impairment associated with prognosis in progressive supranuclear palsy
Language impairment associated with prognosis in progressive supranuclear palsy Open
Background Language impairment is common in progressive supranuclear palsy (PSP) and is often overlooked due to the severity of the motor symptoms. We investigated whether language can be used to predict PSP prognosis. Methods One hundred‐…
View article: At-home wearables and machine learning capture motor impairment and progression in adult ataxias
At-home wearables and machine learning capture motor impairment and progression in adult ataxias Open
A significant barrier to developing disease-modifying therapies for spinocerebellar ataxias (SCAs) and multiple system atrophy of the cerebellar type (MSA-C) is the scarcity of tools to sensitively measure disease progression in clinical t…
View article: Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study Open
Background Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We co…
View article: Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data Open
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable s…
View article: Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses Open
The late-onset GM2 gangliosidoses, comprising late-onset Tay-Sachs and Sandhoff diseases, are rare, slowly progressive, neurogenetic disorders primarily characterized by neurogenic weakness, ataxia, and dysarthria. The aim of this longitud…
View article: Burden of Illness and Mortality in Men with Adrenomyeloneuropathy: A Retrospective Cohort Study
Burden of Illness and Mortality in Men with Adrenomyeloneuropathy: A Retrospective Cohort Study Open
BACKGROUND: Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We c…
View article: Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders
Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders Open
View article: <scp>Gerstmann‐Sträussler‐Scheinker</scp> Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
<span>Gerstmann‐Sträussler‐Scheinker</span> Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology Open
Background Genetic prion diseases, including Gerstmann‐Sträussler‐Scheinker disease (GSS), are extremely rare, fatal neurodegenerative disorders, often associated with progressive ataxia and cognitive/neuropsychiatric symptoms. GSS typical…
View article: Sensitive Quantification of Cerebellar Speech Abnormalities Using Deep Learning Models
Sensitive Quantification of Cerebellar Speech Abnormalities Using Deep Learning Models Open
Objective, sensitive, and meaningful disease assessments are critical to support clinical trials and clinical care. Speech changes are one of the earliest and most evident manifestations of cerebellar ataxias. This work aims to develop mod…
View article: Rates of change of pons and middle cerebellar peduncle diameters are diagnostic of multiple system atrophy of the cerebellar type
Rates of change of pons and middle cerebellar peduncle diameters are diagnostic of multiple system atrophy of the cerebellar type Open
Definitive diagnosis of multiple system atrophy of the cerebellar type (MSA-C) is challenging. We hypothesized that rates of change of pons and middle cerebellar peduncle diameters on MRI would be unique to MSA-C and serve as diagnostic bi…
View article: Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review Open
Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. P…
View article: Editorial: Genetic advances and translational applications in movement disorders
Editorial: Genetic advances and translational applications in movement disorders Open
EDITORIAL article Front. Neurol., 20 September 2023Sec. Neurogenetics Volume 14 - 2023 | https://doi.org/10.3389/fneur.2023.1280958
View article: Uncertainty of Vowel Predictions as a Digital Biomarker for Ataxic Dysarthria
Uncertainty of Vowel Predictions as a Digital Biomarker for Ataxic Dysarthria Open
View article: Sensitive quantification of cerebellar speech abnormalities using deep learning models
Sensitive quantification of cerebellar speech abnormalities using deep learning models Open
Objective Objective, sensitive, and meaningful disease assessments are critical to support clinical trials and clinical care. Speech changes are one of the earliest and most evident manifestations of cerebellar ataxias. The purpose of this…
View article: Management of Coronary Artery Disease in CADASIL Patients: Review of Current Literature
Management of Coronary Artery Disease in CADASIL Patients: Review of Current Literature Open
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia in adults. It is well-established that CADASIL results in neurocognitive dysfunctio…
View article: Real-life ankle submovements and computer mouse use reflect patient-reported function in adult ataxias
Real-life ankle submovements and computer mouse use reflect patient-reported function in adult ataxias Open
Novel disease-modifying therapies are being evaluated in spinocerebellar ataxias and multiple system atrophy. Clinician-performed disease rating scales are relatively insensitive for measuring disease change over time, resulting in large a…