Feasibility of Simon 2-Stage Futility Trials in Early Parkinson Disease: Analysis of the PRECEPT and DATATOP Trial Datasets.

Background And Objectives: Disease-modifying treatments (DMTs) are a major unmet need in Parkinson disease (PD). To date, trials investigating DMT candidates in PD most often used a randomized controlled trial (RCT) design. Unfortunately, RCTs to date have not led to a breakthrough, in part because of the large sample sizes and length of follow-up required.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series.

Hematological Profile with Peripheral Blood Smear Morphology of Admitted COVID-19 Infected Patients: A Study at a COVID Dedicated Hospital in Kashmir.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection started in Wuhan, China, and spread to the rest of the world to become a pandemic affecting over 385 million people throughout the world to date. Coronavirus disease 2019 (COVID-19) is primarily started as a respiratory tract infection. Recent studies indicate that it should be regarded as a systemic disease involving multiple systems including the hematopoietic system.

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.

Ataxia-telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in , which encodes a phosphatidylinositol 3-kinase that responds to DNA damage. Herein, we report a child with progressive ataxia, chorea, and genome instability, highly suggestive of AT.

Cerebellar Brain Inhibition Is Associated With the Severity of Cervical Dystonia.

Purpose: Cerebellar connectivity is thought to be abnormal in cervical dystonia (CD) and other dystonia subtypes, based on evidence from imaging studies and animal work. The authors investigated whether transcranial magnetic stimulation-induced cerebellar brain inhibition (CBI), a measure of cerebellar efficiency at inhibiting motor outflow, is abnormal in patients with CD and/or is associated with clinical features of CD. Because of methodological heterogeneity in CBI reporting, the authors deployed additional controls to reduce potential sources of variability in this study.

Microstructural Abnormalities of the Dentatorubrothalamic Tract in Cervical Dystonia.

Background: The dentatorubrothalamic tract (DRTT) remains understudied in idiopathic cervical dystonia (CD), despite evidence that the pathway is relevant in the pathophysiology of the disorder.

Objective: The aim of this study was to examine the DRTT in patients with CD using diffusion tensor imaging (DTI)-based tractography.

Methods: Magnetic resonance imaging scans from 67 participants were collected to calculate diffusion tractography metrics using a binary tractography-based DRTT template.

Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.

Cognitive impairments are prevalent in Parkinson's disease (PD), but the underlying mechanisms of their development are unknown. In this study, we aimed to predict global cognition (GC) in PD with machine learning (ML) using structural neuroimaging, genetics and clinical and demographic characteristics. As a post-hoc analysis, we aimed to explore the connection between novel selected features and GC more precisely and to investigate whether this relationship is specific to GC or is driven by specific cognitive domains.

Myoclonus and cerebellar ataxia associated with COVID-19: a case report and systematic review.

Background: Since the beginning of the coronavirus disease 2019 (COVID-19) pandemic in December 2019, neurological manifestations have been recognized as potential complications. Relatively rare movement disorders associated with COVID-19 are increasingly reported in case reports or case series. Here, we present a case and systematic review of myoclonus and cerebellar ataxia associated with COVID-19.

Association Between BDNF Val66Met Polymorphism and Mild Behavioral Impairment in Patients With Parkinson's Disease.

Neuropsychiatric symptoms (NPS) are common in Parkinson's disease (PD) and have demonstrated an association with the p. Val66Met, a polymorphism in the gene. Mild behavioral impairment (MBI) is a validated syndrome describing emergent and persistent NPS in older adults as a marker of potential cognitive decline and dementia.

Theta-Burst Stimulation for Cognitive Enhancement in Parkinson's Disease With Mild Cognitive Impairment: A Randomized, Double-Blind, Sham-Controlled Trial.

Mild cognitive impairment is a common non-motor symptom of Parkinson's disease (PD-MCI) and has minimal treatment options. In this double-blind, randomized, sham-controlled trial, we assessed the effect of repeated sessions of intermittent theta-burst stimulation over the left dorsolateral prefrontal cortex on cognition and brain connectivity in subjects with PD-MCI. Forty-one subjects were randomized to receive real ( = 21) or sham stimulation ( = 20).

Action fluency identifies different sex, age, global cognition, executive function and brain activation profile in non-demented patients with Parkinson's disease.

Patients with Parkinson's disease (PD) have difficulties processing action words, which could be related to early cognitive decline. The action fluency test can be used to quickly and easily assess the processing of action words in PD. The goal of this study was to characterize how the action fluency test relates to personal characteristics, disease factors, cognition, and neural activity in PD.

Social cognition in cervical dystonia: phenotype and relationship to anxiety and depression.

Background And Purpose: Anxiety and depression are common disabling comorbidities in cervical dystonia (CD) and may predispose to social withdrawal and social cognitive impairments. The relationship between social cognition and depressive/anxiety symptoms in CD is under-investigated.

Methods: Forty-six CD patients (40 women; mean age ± SD, 55.

Parkinsonian Symptoms, Not Dyskinesia, Negatively Affect Active Life Participation of Dyskinetic Patients with Parkinson's Disease.

Background: The impact of slight-to-moderate levodopa-induced dyskinesia (LID) on the level of participation in active life in patients with Parkinson's disease (PD) has never been objectively determined.

Methods: Levels of LID, tremor and bradykinesia were measured during best-ON state in 121 patients diagnosed with PD and having peak-dose LID using inertial sensors positioned on each body limb. Rigidity and postural instability were assessed using clinical evaluations.

Common and unique connectivity at the interface of motor, neuropsychiatric, and cognitive symptoms in Parkinson's disease: A commonality analysis.

Parkinson's disease (PD) is characterized by overlapping motor, neuropsychiatric, and cognitive symptoms. Worse performance in one domain is associated with worse performance in the other domains. Commonality analysis (CA) is a method of variance partitioning in multiple regression, used to separate the specific and common influence of collinear predictors.

Mild behavioral impairment in Parkinson's disease is associated with altered corticostriatal connectivity.

Background: Mild behavioral impairment (MBI) is a syndrome characterized by later life onset, sustained neuropsychiatric symptoms as a marker of dementia risk. In Parkinson's disease (PD), MBI has been associated with worse cognitive abilities and increased cortical atrophy. However, the circuit level correlates of MBI have not been investigated in this population.

Characterization of cognition in mild cognitive impairment with and without Parkinson's disease.

•Screening tests can diagnose PD-MCI but do not give detailed cognitive profiles.•Criteria based on a complete neuropsychological battery identify more PD patients with MCI.•The overall cognitive profile is similar in PD-MCI and MCI.

The impact of traumatic brain injury on cognitive and neuropsychiatric symptoms of Parkinson's disease.

The objective was to determine whether a history of traumatic brain injury (TBI) was associated with Parkinson's Disease (PD) and specific cognitive, motor, and neuropsychiatric symptoms. A cross-sectional cohort study of 120 participants aged 60-85 years old (48 females) were recruited (69 PD and 51 healthy controls). Assessments included demographic information, neuropsychological tests, a motor evaluation, neuropsychiatric questionnaires, and the Brain Injury Screening Questionnaire.