Anthony E. Lang
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View article: Frozen in Addiction: A New Wave of Drug‐Induced Movement Disorders?
Frozen in Addiction: A New Wave of Drug‐Induced Movement Disorders? Open
View article: Prognostic Value of Parkinson's Disease Subtypes in the <scp>LABS</scp>‐<scp>PD</scp> Cohort: Functional Ability, Quality of Life and Mortality
Prognostic Value of Parkinson's Disease Subtypes in the <span>LABS</span>‐<span>PD</span> Cohort: Functional Ability, Quality of Life and Mortality Open
Background Research on Parkinson's disease (PD) heterogeneity may inform clinical prognosis. There is currently no fully validated PD subtype classification system. Objectives We aimed at assessing the prognostic relevance of a data‐driven…
View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: Metabolic and vascular contributions to dementia: Soluble epoxide hydrolase‐derived linoleic acid oxylipins and glycemic status are related to cerebral small vessel disease markers, atrophy, and cognitive performance
Metabolic and vascular contributions to dementia: Soluble epoxide hydrolase‐derived linoleic acid oxylipins and glycemic status are related to cerebral small vessel disease markers, atrophy, and cognitive performance Open
INTRODUCTION Type 2 diabetes mellitus (T2DM) is a risk factor for dementia and cerebral small vessel disease, but there remains a need to identify targetable molecular pathways involved in the underlying pathophysiology. METHODS In partici…
View article: Refining a Mouse Model of Progressive Supranuclear Palsy Through Inoculation of Human Post-Mortem Brain-Derived Tau
Refining a Mouse Model of Progressive Supranuclear Palsy Through Inoculation of Human Post-Mortem Brain-Derived Tau Open
Objective A major obstacle to developing effective therapies for Progressive Supranuclear Palsy (PSP), a uniformly fatal 4R tauopathy, is the absence of an animal model that faithfully reproduces the anatomical, cytopathological, and spati…
View article: Tics and Tic‐Like Phenomena as Compulsive Acts
Tics and Tic‐Like Phenomena as Compulsive Acts Open
View article: Neuroinflammation distinguishes HLA haplotypes in progressive supranuclear palsy
Neuroinflammation distinguishes HLA haplotypes in progressive supranuclear palsy Open
Objectives Progressive supranuclear palsy (PSP) is a neurodegenerative 4R tauopathy clinically presenting with atypical parkinsonism or cognitive behavioral changes and a relatively uniform neuropathology. We recently identified rare HLA h…
View article: Various Gait Patterns in Chorea‐Acanthocytosis
Various Gait Patterns in Chorea‐Acanthocytosis Open
View article: Disease‐Modifying Trials in Treated Parkinson's Disease: “Stable Treated” Does Not Equate with Biological Stability
Disease‐Modifying Trials in Treated Parkinson's Disease: “Stable Treated” Does Not Equate with Biological Stability Open
Traditionally, clinical trials of putative disease‐modifying therapies in Parkinson's disease have enrolled untreated patients at the earliest clinical stages of their disease. Due to a number of challenges inherent with this approach, the…
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: A Pragmatic Approach to Sexual Health in Movement Disorders
A Pragmatic Approach to Sexual Health in Movement Disorders Open
Background A satisfying sexual life is essential for maintaining good quality of life and healthy relationships for all individuals, including those with movement disorders and their partners. However, its significance is often overlooked …
View article: How Do I Diagnose Multiple System Atrophy—A Videolibrary on Clinical and Imaging Features
How Do I Diagnose Multiple System Atrophy—A Videolibrary on Clinical and Imaging Features Open
No abstract available
View article: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing Open
Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, und…
View article: Lewy-MSA hybrid fold drives distinct neuronal α-synuclein pathology
Lewy-MSA hybrid fold drives distinct neuronal α-synuclein pathology Open
View article: Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome
Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome Open
Background and Purpose Movement disorders are increasingly recognized as late‐occurring neurologic manifestations of 22q11.2 deletion syndrome (22q11.2DS). We aimed to dissect the spectrum of relevant movement disorders in 22q11.2DS, inclu…
View article: The Impact of Neuropsychiatric Symptoms in Perceived Quality of Life in Patients With Progressive Supranuclear Palsy
The Impact of Neuropsychiatric Symptoms in Perceived Quality of Life in Patients With Progressive Supranuclear Palsy Open
Background and Objectives Progressive supranuclear paralysis (PSP) is an atypical parkinsonian disorder associated with oculomotor features, motor disturbances, along with cognitive problems and neuropsychiatric symptoms. Quality of life (…
View article: Distinct Longitudinal Clinical‐Neuroanatomical Trajectories in Parkinson's Disease Clinical Subtypes: Insight toward Precision Medicine
Distinct Longitudinal Clinical‐Neuroanatomical Trajectories in Parkinson's Disease Clinical Subtypes: Insight toward Precision Medicine Open
Background Parkinson's disease (PD) varies widely across individuals in clinical manifestations and course of progression. Identification of distinct biological subtypes could explain this heterogeneity, identify its pathophysiology, and p…
View article: Definition and Classification of Dystonia
Definition and Classification of Dystonia Open
Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its ap…
View article: Tics and Parkinson's Disease: Clinical and Pathophysiological Insights from a Rare Syndromic Association
Tics and Parkinson's Disease: Clinical and Pathophysiological Insights from a Rare Syndromic Association Open
Background The coexistence of tics with Parkinson's disease (PD) is rare, as they often emerge at different ages, follow different trajectories and involve contrasting pathophysiological mechanisms related to dopamine availability and func…
View article: Reducing the CAV1-dependent trafficking of G6PC1 in the liver protects against the development of type 2 diabetes
Reducing the CAV1-dependent trafficking of G6PC1 in the liver protects against the development of type 2 diabetes Open
Targeting hepatic gluconeogenesis is an efficient strategy to counteract the development of type 2 diabetes. Hepatic glucose production into the bloodstream is controlled by the GLUT2 transporter and a vesicular pathway dependent on Caveol…
View article: How do I Know That the Jerks I See Are Tics?
How do I Know That the Jerks I See Are Tics? Open
Tics are prevalent hyperkinesias that are most often encountered in the context of a primary tic disorder, as in Tourette syndrome. Although their recognition is typically straightforward, they often share some phenomenological features wi…
View article: Levodopa‐Carbidopa Intestinal Gel in an Outpatient Setting: A 10‐Year Experience
Levodopa‐Carbidopa Intestinal Gel in an Outpatient Setting: A 10‐Year Experience Open
View article: Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy Open
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by four-repeat (4R) tau protein deposition. The substantia nigra (SN) and midbrain tegmentum nuclei (MBT) are consistently affected. Lymphocyte infiltrates …
View article: A Cross Sectional and Longitudinal Assessment of Neuropsychiatric Symptoms and Brain Functional Connectivity in Patients With Mild Cognitive Impairment, Cerebrovascular Disease and Parkinson Disease
A Cross Sectional and Longitudinal Assessment of Neuropsychiatric Symptoms and Brain Functional Connectivity in Patients With Mild Cognitive Impairment, Cerebrovascular Disease and Parkinson Disease Open
Introduction Mild Behavioral Impairment (MBI) is characterized by later‐life emergent and persistent neuropsychiatric symptoms (NPS) in older adults without dementia, serving as a potential precursor to various forms of dementia. This stud…
View article: Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges
Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges Open
Background Tremor is a hyperkinetic movement disorder defined as a rhythmic, involuntary, oscillatory movement of a body part. It can present as early as in the neonatal period and may be an isolated finding or part of an associated neurol…
View article: Investigation of the HLA locus in autopsy-confirmed progressive supranuclear palsy
Investigation of the HLA locus in autopsy-confirmed progressive supranuclear palsy Open
Our study suggests that epitopes within the tau peptide may bind to HLA alleles that are found in a subset of PSP patients supporting the notion of an autoimmune pathophysiological component. These findings have implications for subtyping …
View article: Motor Neuron Involvement in Two <scp> <i>ATP13A2</i> </scp> ‐Related Families: <scp>ALS</scp> And <scp>HSP</scp> ‐Like Phenotypes
Motor Neuron Involvement in Two <span> <i>ATP13A2</i> </span> ‐Related Families: <span>ALS</span> And <span>HSP</span> ‐Like Phenotypes Open
Background Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor‐Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral …
View article: Misophonia in Tic Disorders and Their Neuropsychiatric Associations
Misophonia in Tic Disorders and Their Neuropsychiatric Associations Open
View article: Protein misfolding: understanding biology to classify and treat synucleinopathies
Protein misfolding: understanding biology to classify and treat synucleinopathies Open
Protein misfolding and aggregation is a major pathological hallmark in a variety of human conditions, including cancer, diabetes, and neurodegeneration. However, we still do not fully understand the role of protein accumulation in disease.…
View article: Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study Open
Background 22q11.2 deletion syndrome (22q11.2DS) has been associated with increased risk of early‐onset Parkinson's disease (PD). Objective To determine the prevalence and predictors of PD in a large international 22q11.2DS sample. Methods…