Longitudinal associations of apathy and regional tau in mild cognitive impairment and dementia: Findings from the Alzheimer's Disease Neuroimaging Initiative.

Introduction: It is important to study apathy in Alzheimer's disease (AD) to better understand its underlying neurobiology and develop effective interventions. In the current study, we sought to examine the relationships between longitudinal apathy and regional tau burden in cognitively impaired older adults from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database.

Methods: Three hundred and nineteen ADNI participants with mild cognitive impairment (MCI) or AD dementia underwent flortaucipir (FTP) tau positron emission tomography (PET) imaging and clinical assessment with the Neuropsychiatric Inventory (NPI) annually.

Neurofilament light chain concentration mediates the association between regional medial temporal lobe structure and memory in adults with Down syndrome.

Introduction: Virtually all people with Down syndrome (DS) develop neuropathology associated with Alzheimer's disease (AD). Atrophy of the hippocampus and entorhinal cortex (EC), as well as elevated plasma concentrations of neurofilament light chain (NfL) protein, are markers of neurodegeneration associated with late-onset AD. We hypothesized that hippocampus and EC gray matter loss and increased plasma NfL concentrations are associated with memory in adults with DS.

MRI free water as a biomarker for cognitive performance: Validation in the MarkVCID consortium.

Introduction: To evaluate the clinical validity of free water (FW), a diffusion tensor imaging-based biomarker kit proposed by the MarkVCID consortium, by investigating the association between mean FW (mFW) and executive function.

Methods: Baseline mFW was related to a baseline composite measure of executive function (EFC), adjusting for relevant covariates, in three MarkVCID sub-cohorts, and replicated in five, large, independent legacy cohorts. In addition, we tested whether baseline mFW predicted accelerated EFC score decline (mean follow-up time: 1.

DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.

Background: DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT-TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT-TUBB4A cases reported in the literature.

Instrumental validation of free water, peak-width of skeletonized mean diffusivity, and white matter hyperintensities: MarkVCID neuroimaging kits.

Introduction: To describe the protocol and findings of the instrumental validation of three imaging-based biomarker kits selected by the MarkVCID consortium: free water (FW) and peak width of skeletonized mean diffusivity (PSMD), both derived from diffusion tensor imaging (DTI), and white matter hyperintensity (WMH) volume derived from fluid attenuation inversion recovery and T1-weighted imaging.

Methods: The instrumental validation of imaging-based biomarker kits included inter-rater reliability among participating sites, test-retest repeatability, and inter-scanner reproducibility across three types of magnetic resonance imaging (MRI) scanners using intra-class correlation coefficients (ICC).

Results: The three biomarkers demonstrated excellent inter-rater reliability (ICC >0.

The relationship between stroke system organization and disparities in access to stroke center care in California.

Background: There are significant racial and ethnic disparities in receipt of reperfusion interventions for acute ischemic stroke. Our objective was to determine whether there are disparities in access to stroke center care by race or ethnicity that help explain differences in reperfusion therapy and to understand whether interhospital patient transfer plays a role in improving access.

Methods: Using statewide administrating data including all emergency department and hospital discharges in California from 2010 to 2017, we identified all acute ischemic stroke patients.

Telehealth use in emergency care during coronavirus disease 2019: a systematic review.

Objective: The coronavirus disease 2019 pandemic has presented emergency departments (EDs) with many challenges to address the acute care needs of patients. Many EDs have leveraged telehealth to innovatively respond to these challenges. This review describes the landscape of telehealth initiatives in emergency care that have been described during the coronavirus disease 2019 pandemic.

Diminished Learning Over Repeated Exposures (LORE) in preclinical Alzheimer's disease.

Introduction: We determine whether diminished Learning Over Repeated Exposures (LORE) identifies subtle memory decrements in cognitively unimpaired (CU) older adults with Alzheimer's disease (AD) biomarker burden.

Methods: Ninety-four CU participants (mean age = 77.6 ± 5.

Saving cognitive outcome data in Alzheimer's disease clinical trials during the COVID-19 pandemic: Commentary on the virtual administration of the ADAS-Cog.

Elderly participants in Alzheimer's disease (AD) clinical trials are at high risk of morbidity and mortality with interpersonal exposure to COVID-19, a situation that is likely to continue for the foreseeable future. Yet, in-person neuropsychological assessments remain the mainstay primary outcomes for clinical trials seeking prevention and cure for AD. The Alzheimer's Disease Assessment Scale-Cognitive (ADAS-Cog) is among the most commonly used cognitive assessment in AD clinical trials, and though currently lacking specific guidelines for virtual administrations, it can be used remotely with appropriate modifications and considerations.

Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Mutations in the ATP1A3 gene (the α-3 subunit of the Na/K ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years.