Urine -Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Canavan disease (CD) is an ultra-rare autosomal recessive leukodystrophy caused by loss-of-function mutations in which encodes aspartoacylase (ASPA), leading to accumulation of -acetylaspartate (NAA). Patients with CD typically present with profound psychomotor deficits within the first 6 months of life and meet few motor milestones. Within CD a subset of patients exhibits a milder phenotype with more milestone acquisition, possibly related to greater residual ASPA activity.

Characterizing visual processing deficits in cerebral adrenoleukodystrophy.

Background And Objectives: Cerebral adrenoleukodystrophy (CALD) can cause visual impairment, but early symptoms are often missed or misdiagnosed. The framework of cerebral visual impairment (CVI) distinguishes deficits in sensory detection ("lower order") from those of perception and interpretation ("higher order"). This study describes visual deficits in patients with CALD and higher order visual function assessed with a virtual reality (VR) interface combined with eye tracking.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.

Methods: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder.

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Context: Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact of NBS upon clinical management has not been reported.

Objective: To investigate whether the implementation of NBS has altered the time to diagnosis of AI in children with ALD.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

Purpose: Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell membrane for surface proteins called GPI-anchored proteins (GPI-APs). Pathogenic variants in genes involved in the biosynthesis of GPI cause inherited GPI deficiency (IGD), which still needs to be further characterized.

Neurologic Manifestations of the World Health Organization's List of Pandemic and Epidemic Diseases.

The World Health Organization (WHO) monitors the spread of diseases globally and maintains a list of diseases with epidemic or pandemic potential. Currently listed diseases include Chikungunya, cholera, Crimean-Congo hemorrhagic fever, Ebola virus disease, Hendra virus infection, influenza, Lassa fever, Marburg virus disease, , MERS-CoV, monkeypox, Nipah virus infection, novel coronavirus (COVID-19), plague, Rift Valley fever, SARS, smallpox, tularemia, yellow fever, and Zika virus disease. The associated pathogens are increasingly important on the global stage.

Resting state connectivity immediately following learning correlates with subsequent sleep-dependent enhancement of motor task performance.

There is ongoing debate concerning the functions of resting-state brain activity. Prior work demonstrates that memory encoding enhances subsequent resting-state functional connectivity within task-relevant networks and that these changes predict better recognition. Here, we used functional connectivity MRI (fcMRI) to examine whether task-induced changes in resting-state connectivity correlate with performance improvement after sleep.

Dental therapy: evolving in Minnesota's safety net.

Objectives: We identified Minnesota's initial dental therapy employers and surveyed dental safety net providers' perceptions of dental therapy.

Methods: In July 2011, we surveyed 32 Minnesota dental safety net providers to assess their prospective views on dental therapy employment options. In October 2013, we used an employment scan to reveal characteristics of the early adopters of dental therapy.