Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.

Objective: To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN).

Methods: Patients with anti-CNTN1 autoimmune nodopathy detected in our laboratory from which clinical information was available were included. Clinical features and treatment response were retrospectively collected.

Spatial and temporal distribution of Ixodes scapularis and tick-borne pathogens across the northeastern United States.

Background: The incidence of tick-borne diseases is increasing across the USA, with cases concentrated in the northeastern and midwestern regions of the country. Ixodes scapularis is one of the most important tick-borne disease vectors and has spread throughout the northeastern USA over the past four decades, with established populations in all states of the region.

Methods: To better understand the rapid expansion of I.

A Nursing Home Clinician Survey to Explain Gabapentinoid Increases.

Objectives: Survey nursing home (NH) clinicians about the indications for NH gabapentinoid use, the factors driving increased prescribing, and their experiences with gabapentinoid deprescribing.

Design: Online clinician survey.

Setting And Participants: NH clinicians prescribing gabapentinoids in US NHs.

Prescribing Trends and Associated Outcomes of Antiepileptic Drugs and Other Psychotropic Medications in US Nursing Homes: Proposal for a Mixed Methods Investigation.

Background: Pilot data suggest that off-label, unmonitored antiepileptic drug prescribing for behavioral and psychological symptoms of dementia is increasing, replacing other psychotropic medications targeted by purposeful reduction efforts. This trend accelerated during the COVID-19 pandemic. Although adverse outcomes related to this trend remain unknown, preliminary results hint that harms may be increasing and concentrated in vulnerable populations.

Understanding Pandemic Increases in Long-Stay Psychotropic Prescribing for Dementia Symptoms: A Survey of Nursing Home Clinicians.

To explore the perceptions of nursing home (NH) clinicians regarding factors underpinning known increases in psychotropic prescribing over the COVID-19 pandemic. : Three iterative online surveys were fielded to Virginia NH prescribing clinicians (11/2021-6/2022) to assess their perspectives regarding factors driving pandemic increases in NH psychotropic use. Existing literature and emerging survey data informed survey content.

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disease caused by biallelic variants in the gene encoding for sacsin. More than 200 pathogenic variants have been identified to date, most of which are missense. It is likely that the prevalence of autosomal recessive spastic ataxia of Charlevoix-Saguenay is underestimated due to the lack of an efficient diagnostic tool able to validate variants of uncertain significance.

Understanding Long-Stay Gabapentin Use Increases: A National Nursing Home Clinician Survey on Prescribing Intent.

Objectives: Explore the indications for long-stay gabapentin use and elucidate the factors spurring the rapid increase in gabapentin prescribing in nursing homes (NHs).

Methods: National cross-sectional survey of NH prescribers distributed anonymously using SurveyMonkey. Sampling for convenience was obtained through crowdsourcing, leveraging collaborations with NH clinician organizations.

Lessons learned from CMS's National Partnership to Improve Dementia Care: a thematic synthesis of multiple stakeholder-engaged studies.

Background: Antipsychotic prescribing in United States nursing homes (NHs) has decreased since the Center for Medicare & Medicaid Service debuted the National Partnership to Improve Dementia Care in Nursing Homes (NP); however, reductions have stalled. To help explain persistent antipsychotic use despite the NP's reduction efforts, the perspectives of diverse NP stakeholders were qualitatively assessed. This study aimed to re-evaluate these individual perspectives in combined thematic synthesis to discover NP improvement opportunities undetectable in single stakeholder assessments.

Quality Gap in Long-Stay Antipsychotic Quality Measure Performance Widens Over the Pandemic, Reversing Past Gains.

The Centers for Medicare & Medicaid Services (CMS) grades nursing home performance in antipsychotic prescribing quarterly, publishing findings as a quality measure. While scores have improved since 2011, marked performance variation between facilities persists. To assess quality gap changes between best- and worst-performing deciles, we compared quarterly prescribing changes between these groups pre-pandemic (April 2011 to March 2020) and during the pandemic (April 2020 to March 2022).

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (IPNs), spastic paraplegias, and cerebellar ataxias. These clinically defined borders are being challenged by the identification of mutations in genes displaying wide phenotypic spectra and by shared pathomechanistic themes, which are valuable indications for therapy development.

Trends in Antiseizure Medication Prescribing Among Nursing Home Residents With and Without a Seizure Diagnosis.

Objectives: Evaluate current prevalence and changes in prescribing of antiseizure medications (ASMs) in Virginia nursing homes for residents with and without seizures.

Methods: Retrospective cohort. De-identified claims extracted from the Virginia All-Payers-Claims-Database defined annual and biennial cohorts of all insured long-stay residents with and without any claims-based seizure diagnoses.

Distinct features in adult polyglucosan body disease: a case series.

Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD. By clinical phenotyping, detailed neuroimaging of both central nervous system and skeletal muscle, genetic and biochemical testing, we confront our findings with the classical presentation of adult polyglucosan body disease and emphasize the importance of a multidisciplinary approach when diagnosing these patients.

Community, Social, and Facility Factors and Long-stay Antipsychotic Use.

Objectives: Compare Virginia nursing homes in the top- and bottom-quintiles of antipsychotic use for variation in community, social, and facility factors.

Methods: 2018 CMS data ascertained Virginia nursing homes in the top and bottom quintiles for antipsychotic use. The Virginia Health Department provided social determinant of health (SDOH) statistics for each facility's county/city while claims identified facility demographics.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Background And Purpose: Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to investigate the prevalence of RFC1 repeat expansions in a cohort of HSAN patients.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Background: Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy.

Objectives: We investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia.

Modeling the sensitivity of cyanobacteria blooms to plausible changes in precipitation and air temperature variability.

Many recent studies have attributed the observed variability of cyanobacteria blooms to meteorological drivers and have projected blooms with worsening societal and ecological impacts under future climate scenarios. Nonetheless, few studies have jointly examined their sensitivity to projected changes in both precipitation and temperature variability. Using an Integrated Assessment Model (IAM) of Lake Champlain's eutrophic Missisquoi Bay, we demonstrate a factorial design approach for evaluating the sensitivity of concentrations of chlorophyll a (chl-a), a cyanobacteria surrogate, to global climate model-informed changes in the central tendency and variability of daily precipitation and air temperature.

Stronger temperature-moisture couplings exacerbate the impact of climate warming on global crop yields.

Rising air temperatures are a leading risk to global crop production. Recent research has emphasized the critical role of moisture availability in regulating crop responses to heat and the importance of temperature-moisture couplings in driving concurrent heat and drought. Here, we demonstrate that the heat sensitivity of key global crops depends on the local strength of couplings between temperature and moisture in the climate system.

Autochthonous Cases of Tick-Borne Encephalitis, Belgium, 2020.

We report 3 confirmed autochthonous tick-borne encephalitis cases in Belgium diagnosed during summer 2020. Clinicians should include this viral infection in the differential diagnosis for patients with etiologically unexplained neurologic manifestations, even for persons without recent travel history.