Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease.

Motor Performance During Sensorimotor Training for Airway Protection in Parkinson's Disease.

Introduction: Cough dysfunction is highly prevalent in Parkinson's disease (PD) and associated with pneumonia, a leading cause of death. Although research suggests that cough can be volitionally upregulated, patterns of improvements that occur during cough skill training and potential correlates remain unexamined. Therefore, we sought to characterize changes to peak flow during cough skill training, examine whether early variability predicted motor performance trajectories during treatment, and explore the relationship between peak flow during cough skill training and motor learning on a similar but untrained task (i.

Spinal cord stimulation for gait disturbances in Parkinson's disease.

Introduction: Gait disturbances are a major contributor to the disability associated with Parkinson's disease. Although pharmacologic therapies and deep brain stimulation improve most motor parkinsonian features, their effects on gait are highly variable. Spinal cord stimulation, typically used for the treatment of chronic pain, has emerged as a potential therapeutic approach to improve gait disturbances in Parkinson's disease.

Future directions in psychiatric neurosurgery: Proceedings of the 2022 American Society for Stereotactic and Functional Neurosurgery meeting on surgical neuromodulation for psychiatric disorders.

Objective: Despite advances in the treatment of psychiatric diseases, currently available therapies do not provide sufficient and durable relief for as many as 30-40% of patients. Neuromodulation, including deep brain stimulation (DBS), has emerged as a potential therapy for persistent disabling disease, however it has not yet gained widespread adoption. In 2016, the American Society for Stereotactic and Functional Neurosurgery (ASSFN) convened a meeting with leaders in the field to discuss a roadmap for the path forward.

Quantifying Impairments in Swallowing Safety and Efficiency in Progressive Supranuclear Palsy and Parkinson's Disease.

Dysphagia is a largely inevitable symptom in both progressive supranuclear palsy (PSP) and Parkinson's disease (PD). To date, comparative studies in these diseases have failed to detect differences in the severity of impairments in swallowing safety or efficiency, potentially due to small sample sizes and outcome measures with low sensitivity. Therefore, this study sought to address these limitations by using novel measurement methodology to comprehensively compare swallowing safety and efficiency impairments between these populations in order to better understand whether differences may exist and guide clinical management.

Rehabilitating Cough Dysfunction in Parkinson's Disease: A Randomized Controlled Trial.

Background: Disorders of airway protection (cough and swallowing) are pervasive in Parkinson's disease (PD) resulting in a high incidence of aspiration pneumonia and death. However, there are no randomized controlled trials comparing strength and skill-based approaches to improve airway protection in PD.

Objectives: The aim of this study was to compare expiratory muscle strength training (EMST) and sensorimotor training for airway protection (smTAP) to improve cough-related outcomes in people with PD.

Association of clinical outcomes and connectivity in awake versus asleep deep brain stimulation for Parkinson disease.

Objective: Deep brain stimulation (DBS) for Parkinson disease (PD) is traditionally performed with awake intraoperative testing and/or microelectrode recording. Recently, however, the procedure has been increasingly performed under general anesthesia with image-based verification. The authors sought to compare structural and functional networks engaged by awake and asleep PD-DBS of the subthalamic nucleus (STN) and correlate them with clinical outcomes.

Where Do Parkinson's Disease Patients Look While Walking?

Background: Parkinson's disease (PD) is associated with gait and visuomotor abnormalities, but it is not clear where PD patients look during ambulation.

Objective: We sought to characterize the visual areas of interest explored by PD patients, with and without freezing of gait (FOG), compared to healthy volunteers (HVs).

Methods: Using an eye-tracking device, we compared visual fixation patterns in 17 HVs and 18 PD patients, with and without FOG, during an ambulatory and a nonambulatory, computer-based task.

Case Report: Dual Target Deep Brain Stimulation With Externalized Programming for Post-traumatic Complex Movement Disorder.

Movement disorders can be common, persistent, and debilitating sequelae of severe traumatic brain injury. Post-traumatic movement disorders are usually complex in nature, involving multiple phenomenological manifestations, and can be difficult to control with medical management alone. Deep brain stimulation (DBS) has been used to treat these challenging cases, but distorted brain anatomy secondary to trauma can complicate effective targeting.

COVID-19 manifestations in people with Parkinson's disease: a USA cohort.

Background: With the explosion of COVID-19 globally, it was unclear if people with Parkinson's disease (PD) were at increased risk for severe manifestations or negative outcomes.

Objectives: To report on people with PD who had suspected or confirmed COVID-19 to understand how COVID-19 manifested in PD patients.

Methods: We surveyed PD patients who reported COVID-19 to their Movement Disorders specialists at Columbia University Irving Medical Center and respondents from an online survey administered by the Parkinson's Foundation that assessed COVID-19 symptoms, general clinical outcomes and changes in motor and non-motor PD symptoms.

Using computerized spiral analysis to evaluate deep brain stimulation outcomes in Parkinson disease.

Objective: To determine whether spiral analysis can monitor the effects of deep brain stimulation (DBS) in Parkinson disease (PD) and provide a window on clinical features that change post-operatively. Clinical evaluation after DBS is subjective and insensitive to small changes. Spiral analysis is a computerized test that quantifies kinematic, dynamic, and spatial aspects of spiral drawing.

Cerebellar Oscillations in Familial and Sporadic Essential Tremor.

Enhanced cerebellar oscillations have recently been identified in essential tremor (ET) patients as a key pathophysiological change. Since ET is considered a heterogeneous group of diseases, we investigated whether cerebellar oscillations differ in ET subtypes (familial vs. sporadic).

Telemedicine and Deep brain stimulation - Current practices and recommendations.

The use of telemedicine in the management of chronic neurological conditions including movement disorders has expanded over time. In addition to enabling remote access to specialized care, telemedicine has also been shown to reduce caregiver burden and to improve patient satisfaction. With the COVID-19 pandemic, implementation of telehealth for patients with movement disorders, particularly those with more severe mobility issues, has increased rapidly.

Sensorimotor Cough Dysfunction Is Prevalent and Pervasive in Progressive Supranuclear Palsy.

Background: Pneumonia, a leading cause of death in progressive supranuclear palsy (PSP), results from progressive and pervasive deficits of airway protection, including both cough and swallowing dysfunction. Cough protects the airway by expelling aspirate and may be an important therapeutic target to protect against pneumonia in the presence of dysphagia. However, cough has not been objectively characterized in PSP or compared to other common forms of parkinsonism, such as Parkinson's disease (PD).

Immediate Effects of Sensorimotor Training in Airway Protection (smTAP) on Cough Outcomes in Progressive Supranuclear Palsy: A Feasibility Study.

Progressive supranuclear palsy (PSP) is a neurodegenerative disease characterized by a high prevalence of dysphagia, cough dysfunction, and resultant aspiration pneumonia. Sensorimotor cough function is important for airway clearance in people with dysphagia. Upregulation of cough has been demonstrated in healthy adults and Parkinson's disease; however, the feasibility of cough rehabilitation in PSP is unknown.

The impact of COVID-19 and social distancing on people with Parkinson's disease: a survey study.

As the COVID-19 pandemic continues to affect the international community, very little is known about its impact on the health and day-to-day activities of people with Parkinson's disease (PwPD). To better understand the emotional and behavioral consequences of the public health policies implemented to mitigate the spread of SARS-CoV-2 in PwPD, and to explore the factors contributing to accessing alternative health care mechanisms, such as telehealth, we administered an anonymous knowledge, attitude, and practice survey to PwPD and care partners, via the mailing lists of the Parkinson's Foundation and Columbia University Parkinson's Disease Center of Excellence with an average response rate of 19.3%.

Normative vs. patient-specific brain connectivity in deep brain stimulation.

Brain connectivity profiles seeding from deep brain stimulation (DBS) electrodes have emerged as informative tools to estimate outcome variability across DBS patients. Given the limitations of acquiring and processing patient-specific diffusion-weighted imaging data, a number of studies have employed normative atlases of the human connectome. To date, it remains unclear whether patient-specific connectivity information would strengthen the accuracy of such analyses.

The Role of Vocal Fold Bowing on Cough and Swallowing Dysfunction in Progressive Supranuclear Palsy.

Objectives: Progressive supranuclear palsy (PSP) is a neurodegenerative disease which results in cough and swallowing dysfunction and aspiration pneumonia. Relationships among vocal fold atrophy, cough, and swallowing have been identified in related diseases, but remain unknown in PSP. This study examined: 1) the prevalence of vocal fold bowing in PSP, and 2) the influence of vocal fold bowing on cough and swallowing in PSP.

Neuroanatomical predictors of L-DOPA response in older adults with psychomotor slowing and depression: A pilot study.

Background: Declining function in dopamine circuits is implicated in normal aging and late-life depression (LLD). Dopamine augmentation recently has shown therapeutic promise, but predictors of response are unknown.

Methods: Depressed elders with slowed gait underwent baseline magnetic resonance imaging (MRI) and [C]raclopride positron emission tomography (PET).

Evidence From Parkinson's Disease That the Superior Colliculus Couples Action and Perception.

Background: Action and perception should be coordinated for good visual-motor performance. The mechanism coupling action and perception may be a prominence map in the intermediate layer of the superior colliculus that modulates motor and attentional/perceptual processes. This coordination comes with a cost: the misperception that briefly overlapping stimuli are separated in time.

RETRACTED: Effects of L-DOPA Monotherapy on Psychomotor Speed and [C]Raclopride Binding in High-Risk Older Adults With Depression.

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