Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. [PDF]
J NeurolOBJECTIVE To evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological symptoms, and quantify the threshold for a ...
Park J +22 more
europepmc +2 more sources
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials [PDF]
NeurotherapeuticsLeukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic +3 more
doaj +2 more sources
Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]
J Inherit Metab DisABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K +3 more
europepmc +2 more sources
Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease. [PDF]
CellsSandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the HEXB gene, which encodes the β-subunit of the enzyme β-hexosaminidase.
Platt N +8 more
europepmc +3 more sources
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. [PDF]
Neurology, 2023 Background and Objectives GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal recessive, neurodegenerative diseases with no available symptomatic or disease-modifying treatments.
Martakis K +13 more
europepmc +2 more sources
Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]
Dev Med Child NeurolThis study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM +3 more
europepmc +2 more sources
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. [PDF]
Mol Genet MetabKissell J +10 more
europepmc +2 more sources
White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy
Frontiers in Cellular Neuroscience, 2021 The gangliosidoses are a family of neurodegenerative lysosomal storage diseases that have recently seen promising advances in gene therapy. White matter deficits are well established components of gangliosidosis pathology that are now receiving more ...
Anne S. Maguire +3 more
doaj +1 more source
CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors. [PDF]
Int J Mol Sci, 2022 The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to the impaired GM2 ganglioside degradation inside the lysosome. Under physiological conditions, GM2 ganglioside is catabolized by the β-hexosaminidase A in
Leal AF +7 more
europepmc +2 more sources
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. [PDF]
Neurosci Lett, 2021 Toro C, Zainab M, Tifft CJ.
europepmc +2 more sources