Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.

Virchows Arch

Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, 60 Leonard Ave, Toronto, ON, M5T 0S8, Canada.

Published: September 2024

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00428-024-03868-8DOI Listing

Publication Analysis

Top Keywords

novel neuropathological
4
neuropathological findings
4
findings long-term
4
long-term survivor
4
survivor d-2-hydroxyglutaric
4
d-2-hydroxyglutaric aciduria
4
aciduria type
4
novel
1
findings
1
long-term
1

Similar Publications

Microinfarcts and microhemorrhages are characteristic lesions of cerebrovascular disease. Although multiple studies have been published, there is no one universal standard criteria for the neuropathological assessment of cerebrovascular disease. In this study, we propose a novel application of machine learning in the automated screening of microinfarcts and microhemorrhages.

View Article and Find Full Text PDF

Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.

Methods: Data and imaging were obtained from the patient's medical records.

View Article and Find Full Text PDF

Introduction: We investigated whether the cerebellum develops neuropathology that correlates with well-accepted Alzheimer's disease (AD) neuropathological markers and cognitive status.

Methods: We studied cerebellar cytoarchitecture in a cohort (N = 30) of brain donors. In a larger cohort (N = 605), we queried whether the weight of the contents of the posterior fossa (PF), which contains primarily cerebellum, correlated with dementia status.

View Article and Find Full Text PDF

Anti-IgLON5 disease was identified 10 years ago, thanks to the discovery of IgLON5 antibodies and the joint effort of specialists in sleep medicine, neuroimmunology, and neuropathology. Without this collaboration, it would have been impossible to untangle fundamental aspects of this disease. After the seminal description in 2014, today there is growing evidence that most patients present a chronic progressive course with gait instability, abnormal movements, bulbar dysfunction, and a sleep disorder characterized by nonrapid eye movement and REM parasomnias, and obstructive sleep apnea with stridor.

View Article and Find Full Text PDF

Modulation of stress-, pain-, and alcohol-related behaviors by perineuronal nets.

Neurobiol Stress

November 2024

Department of Pharmacology and Toxicology, Virginia Commonwealth University, Richmond, VA, 23298, USA.

Perineuronal nets (PNNs) are a special form of central nervous system extracellular matrix enriched in hyaluronan, chondroitin sulfate proteoglycans, tenascins, and link proteins that regulate synaptic plasticity. Most PNNs in the brain surround parvalbumin-expressing inhibitory interneurons, which tightly regulate excitatory/inhibitory balance and brain activity associated with optimal cognitive functioning. Alterations in PNNs have been observed in neurological diseases and psychiatric disorders, suggesting that they may be key contributors to the neuropathological progression and behavioral changes in these diseases.

View Article and Find Full Text PDF

Want 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!