The serial MR image and MR spectroscopy in the brain were examined in a young male diagnosed as having juvenile Alexander disease. He had megalencephaly, psychomotor retardation, seizures, and increasing elevation of increasing alpha-B crystallin and heat shock protein 27 in the cerebrospinal fluid. Serial MR images demonstrated increased demyelination of the bilateral frontal region to left occipital region over several years. The myo-inositol/creatine ratio was significantly increased in both the demyelinated white matter and normal area in the MR spectroscopy. These results suggested that demyelination very slowly progressed from the frontal to occipital region and that glial degeneration may occur even in the unaffected white matter of patients with juvenile Alexander disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0387-7604(02)00080-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Mental Health Service Referral and Treatment Following Screening and Assessment in Juvenile Detention.
J Am Acad Psychiatry Law
December 2024
Dr. Tedeschi, Dr. Surko, and Dr. Baetz are Clinical Assistant Professors; Dr. Horwitz is a Professor; Mr. Guo is a research scientist; and Dr. Havens is Department Chair, Department of Child & Adolescent Psychiatry (DCAP), New York University Grossman School of Medicine, New York, New York. Dr. Weinberger is a psychology resident, Denver Health Medical Center, Denver, Colorado. Ms. Bart is an executive assistant, Brennan Center for Justice at NYU School of Law, New York, New York. Ms. Alexander is a doctoral student, Department of Psychology, University of Utah, Salt Lake City, Utah.
Article Synopsis
- - This study focuses on the mental health of justice-involved youth by examining trauma-informed mental health screenings and their outcomes in New York City's juvenile detention facilities.
- - Out of 786 eligible youth, 73.9% voluntarily underwent screenings, with 53.2% receiving a diagnostic evaluation, indicating a significant relationship between positive screenings for depression and PTSD and further evaluations.
- - The findings reveal a high prevalence of ADHD among detainees, emphasizing the need for coordinated mental health screening and referral systems to better address the unique challenges faced by this population.
Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis.
J AAPOS
October 2024
Ophthalmology, Hospital Wanita dan Kanak-Kanak, Sabah, Malaysia.
RS1 gene mutations are known to be a direct cause of the hereditary retinopathy known as retinoschisis. We describe a group of 3 siblings with the same RS1 gene mutation who presented with different retinopathy phenotypes. Genetic testing confirmed the RS1 genotypes.
View Article and Find Full Text PDFA Weight-of-Evidence Approach for Understanding the Recovery of Okanagan Sockeye Salmon.
Environ Manage
December 2024
Okanagan Nation Alliance, Westbank, BC, Canada.
The productivity of Pacific Sockeye salmon (Oncorhynchus nerka) in the Columbia River has been declining over the past century. Yet, the Okanagan River Sockeye salmon population, which spawns in the Okanagan River, a Canadian tributary of the Columbia River, has seen a remarkable turnaround in abundance. Different hypotheses and lines of evidence covering multiple spatial scales have been proposed to explain this recovery; but they have never been comprehensively assessed.
View Article and Find Full Text PDFBottom-up processes drive isotopic variation in the South American sea lion Otaria flavescens across a 2300 km latitudinal gradient.
Mar Environ Res
November 2024
Centro de Investigación y Gestión de Los Recursos Naturales (CIGREN), Universidad de Valparaíso, Valparaíso, Chile; Núcleo Milenio de Salmónidos Invasores (INVASAL), Universidad de Concepción, Concepción, Chile.
Spatial differences in the isotope values of widely distributed marine apex consumers may reflect geographical differences in the isotopic composition of basal resources (e.g., phytoplankton) fueling food webs (bottom-up effects) or spatial differences in the trophic ecology of the taxon of interest (top-down effects).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!