Artificial Intelligence in the Diagnosis and Quantitative Phenotyping of Hyperkinetic Movement Disorders: A Systematic Review.

: Hyperkinetic movement disorders involve excessive, involuntary movements such as ataxia, chorea, dystonia, myoclonus, tics, and tremor. Recent advances in artificial intelligence (AI) allow investigators to integrate multimodal instrumented movement measurements and imaging techniques and to analyze these data together at scale. In this systematic review, we aim to characterize AI's performance in diagnosing and quantitatively phenotyping these disorders.

Recalibrating the Why and Whom of Animal Models in Parkinson Disease: A Clinician's Perspective.

Animal models have been used to gain pathophysiologic insights into Parkinson's disease (PD) and aid in the translational efforts of interventions with therapeutic potential in human clinical trials. However, no disease-modifying therapy for PD has successfully emerged from model predictions. These translational disappointments warrant a reappraisal of the types of preclinical questions asked of animal models.

Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia.

A 48-year-old man was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurologic workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and mitochondrial testing. An ataxia repeat expansion panel ultimately revealed the final diagnosis.

Education Research: Junior Neurology Residents Achieve Competency but Not Mastery After a Brief Acute Ischemic Stroke Simulation Course.

Background And Objectives: Simulation bootcamps are used to onboard neurology trainees. It is not known whether these bootcamps result in competency for acute ischemic stroke (AIS).

Methods: For this prospective, single-center pre-post educational intervention study, the Angoff standard setting method was used to determine a Minimum Passing Score (MPS) and Mastery Score for 2 AIS simulations.

What Is Hemidystonia?

Background: Hemidystonia is defined as dystonia restricted to one side of the body. It is traditionally believed to result from a lesion in the contralateral hemisphere.

Objectives: To describe a series of hemidystonia patients without lesions on brain imaging.

Disease-modifying vs symptomatic treatments: Splitting over lumping.

Clinical trials of putative disease-modifying therapies in neurodegeneration have obeyed the century-old principle of convergence, or lumping, whereby any feature of a clinicopathologic disease entity is considered relevant to most of those affected. While this convergent approach has resulted in important successes in trials of symptomatic therapies, largely aimed at correcting common neurotransmitter deficiencies (e.g.

Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.

Background: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive lower extremity spasticity and weakness caused by corticospinal tract degeneration. Published literature on genetically confirmed pediatric HSP cases is limited.

Methods: We conducted a retrospective review of childhood-onset HSP cases followed in the neuromuscular clinics at Children's and Emory Healthcare in Atlanta.

Movement disorders associated with neuronal antibodies: a data-driven approach.

Background: Movement disorders can be associated with anti-neuronal antibodies.

Methods: We conducted a systematic review of cases with documented anti-neuronal antibodies in serum and/or cerebrospinal fluid published in PubMed before April 1, 2020. Only patients with at least one movement disorder were included.

Quality of life in upper airway resistance syndrome.

Study Objectives: To evaluate the health-related quality of life (HRQoL) in patients with upper airway respiratory syndrome (UARS) and obstructive sleep apnea (OSA) compared to the general population (GP) in Lima, Peru, and to explore the variables associated with differences in HRQoL in patients with UARS.

Methods: This was a retrospective study of medical and polysomnography records from 2009-2014 in a referral sleep medicine center for patients aged 18-64 years. UARS was defined by polysomnography as follows: apnea-hypopnea index < 5 events/h, oxygen saturation ≥ 92%, respiratory effort-related arousal index ≥ 5.

Impact of behavioral side effects on the management of Parkinson patients treated with dopamine agonists.

Dopamine agonists are one of the main stay of treatment option for Parkinson disease (PD). Side effects that develop from their use are generally categorized into and . Behavioral side effects include: impulse control behavior disorder (ICD), psychosis and cognitive impairment.

Association of Orthostatic Hypotension With Cerebral Atrophy in Patients With Lewy Body Disorders.

Objective: To evaluate whether orthostatic hypotension (OH) or supine hypertension (SH) is associated with brain atrophy and white matter hyperintensities (WMH), we analyzed clinical and radiologic data from a large multicenter consortium of patients with Parkinson disease (PD) and dementia with Lewy bodies (DLB).

Methods: Supine and orthostatic blood pressure (BP) and structural MRI data were extracted from patients with PD and DLB evaluated at 8 tertiary-referral centers in the United States, Canada, Italy, and Japan. OH was defined as a systolic/diastolic BP fall ≥20/10 mm Hg within 3 minutes of standing from the supine position (severe ≥30/15 mm Hg) and SH as a BP ≥140/90 mm Hg with normal sitting BP.

Non-Motor Fluctuations in Parkinson's Disease: Validation of the Non-Motor Fluctuation Assessment Questionnaire.

Background: In patients with Parkinson's disease (PD), sleep, mood, cognitive, autonomic, and other non-motor symptoms may fluctuate in a manner similar to motor symptoms.

Objectives: To validate a final version of a patient-rated questionnaire that captures the presence and severity of non-motor fluctuations in levodopa-treated PD patients (NoMoFA).

Methods: We recruited PD subjects from five movement disorders centers across the US and Canada.

Genetic parkinsonisms and cancer: a systematic review and meta-analysis.

Genes associated with parkinsonism may also be implicated in carcinogenesis, but their interplay remains unclear. We systematically reviewed studies (PubMed 1967-2019) reporting gene variants associated with both parkinsonism and cancer. Somatic variants were examined in cancer samples, whereas germline variants were examined in cancer patients with both symptomatic and asymptomatic (carriers) genetic parkinsonisms.

Phenotype-Agnostic Molecular Subtyping of Neurodegenerative Disorders: The Cincinnati Cohort Biomarker Program (CCBP).

Ongoing biomarker development programs have been designed to identify serologic or imaging signatures of clinico-pathologic entities, assuming distinct biological boundaries between them. Identified putative biomarkers have exhibited large variability and inconsistency between cohorts, and remain inadequate for selecting suitable recipients for potential disease-modifying interventions. We launched the Cincinnati Cohort Biomarker Program (CCBP) as a population-based, phenotype-agnostic longitudinal study.

COVID-19 and Guillain-Barre Syndrome: a systematic review of case reports.

Guillain-Barre Syndrome (GBS) is a neurological autoimmune disease that can lead to respiratory failure and death. Whether COVID-19 patients are at high risk of GBS is unknown. Through a systematic review of case reports, we aimed to summarize the main features of patients with GBS and COVID-19.

Development and Validation of the Orthostatic Tremor Severity and Disability Scale (OT-10).

Background: Limited tools are available for the assessment of orthostatic tremor severity and disability.

Objectives: To develop and validate a self-administered orthostatic tremor scale.

Methods: After expert consensus and literature review generating a list of 42 items, the scale was developed and modified for validation after a patient focus group, multiple rounds of Delphi panels, and cognitive interviews.

When does postural instability appear in monogenic parkinsonisms? An individual-patient meta-analysis.

Background: Postural instability is a disease milestone signaling advanced disease.

Objectives: To estimate the onset of postural instability in monogenic parkinsonisms.

Methods: We systematically reviewed studies (PubMed 1996-2017) in SNCA, PRKN, PINK1, DJ-1, LRRK2, ATP13A2, FBXO7, VPS35, DNAJC6, or SYNJ1-related monogenic parkinsonisms, with documented postural instability.

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.

Objective: Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner. Furthermore, body regions at risk for spread and the clinical factors associated with spread risk are not well characterised. We sought here to prospectively characterise risk of spread in recently diagnosed adult-onset isolated focal dystonia patients.

Internal Versus External Frame of Reference in Functional Movement Disorders.

Objective: The purpose of this study was to determine whether patients with functional movement disorders (FMDs) differ in their internal versus external locus of control (LOC) and whether LOC in these patients affected disease severity, quality of life, and functional impairment compared with control subjects with degenerative (Parkinson's disease) and nondegenerative (focal dystonia) neurological conditions.

Methods: A total of 156 patients with FMD (N=45), Parkinson's disease (N=64), and focal dystonia (N=47) were recruited between June 2015 and August 2017. The authors administered the general Levenson Multidimensional LOC (LOC-G) and health-specific Multidimensional Health LOC (LOC-H) scales.

Orthostatic hypotension and REM sleep behaviour disorder: impact on clinical outcomes in α-synucleinopathies.

Objective: Review the effect of orthostatic hypotension (OH) and rapid-eye-movement sleep behavioural disorder (RBD) on survival, cognitive impairment and postural stability, and discuss pathogenic mechanisms involved in the association of these two common non-motor features with relevant clinical outcomes in α-synucleinopathies.

Methods: We searched PubMed (January 2007-February 2019) for human studies of OH and RBD evaluating cognitive impairment, postural instability, and survival in Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA) and pure autonomic failure (PAF). Included studies were analysed for design, key results and limitations as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

A roadmap for implementation of patient-centered digital outcome measures in Parkinson's disease obtained using mobile health technologies.

Obtaining reliable longitudinal information about everyday functioning from individuals with Parkinson's disease (PD) in natural environments is critical for clinical care and research. Despite advances in mobile health technologies, the implementation of digital outcome measures is hindered by a lack of consensus on the type and scope of measures, the most appropriate approach for data capture (eg, in clinic or at home), and the extraction of timely information that meets the needs of patients, clinicians, caregivers, and health care regulators. The Movement Disorder Society Task Force on Technology proposes the following objectives to facilitate the adoption of mobile health technologies: (1) identification of patient-centered and clinically relevant digital outcomes; (2) selection criteria for device combinations that offer an acceptable benefit-to-burden ratio to patients and that deliver reliable, clinically relevant insights; (3) development of an accessible, scalable, and secure platform for data integration and data analytics; and (4) agreement on a pathway for approval by regulators, adoption into e-health systems and implementation by health care organizations.

OnabotulinumtoxinA and cognitive behavioral therapy in functional dystonia: A pilot randomized clinical trial.

Introduction: Functional dystonia (FD) is a disabling movement disorder with limited therapeutic options. We aimed to examine the efficacy and safety of chemodenervation with OnabotulinumtoxinA (BoNT) versus placebo prior to cognitive behavioral therapy (CBT) in FD patients.

Methods: FD patients with a Psychogenic Movement Disorders Rating Scale (PMDRS) score ≥ 10 and persistent dystonic posturing for ≥ 1 year were randomized to BoNT or placebo injections prior to 12 weekly individualized 1-h CBT sessions.

Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases.

The gold standard for a definitive diagnosis of Parkinson disease (PD) is the pathologic finding of aggregated α-synuclein into Lewy bodies and for Alzheimer disease (AD) aggregated amyloid into plaques and hyperphosphorylated tau into tangles. Implicit in this clinicopathologic-based nosology is the assumption that pathologic protein aggregation at autopsy reflects pathogenesis at disease onset. While these aggregates may in exceptional cases be on a causal pathway in humans (e.