The diagnostic journey for patients with late-onset GM2 Gangliosidoses [PDF]
Molecular Genetics and Metabolism Reports, 2023 Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Cynthia J Tifft
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Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]
PLoS BiologyGlycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson +11 more
doaj +10 more sources
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients [PDF]
Molecular Genetics and Metabolism Reports, 2022 GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford +10 more
doaj +5 more sources
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) [PDF]
Orphanet Journal of Rare DiseasesBackground The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy.
Bénédicte Héron +9 more
doaj +3 more sources
Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study [PDF]
Orphanet Journal of Rare DiseasesBackground GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez +8 more
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Chitotriosidase as a biomarker for gangliosidoses
Molecular Genetics and Metabolism Reports, 2021 Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim +2 more
doaj +3 more sources
Cells, 2020 (1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Vidiyaah Santhanakumaran +2 more
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Clinical Case Reports (discontinued), 2020 Sandhoff disease is one of the GM2‐gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2‐ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in
Parvaneh Nikpour +2 more
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The juvenile gangliosidoses: A timeline of clinical change
Molecular Genetics and Metabolism Reports, 2020 Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King +3 more
doaj +3 more sources
The spectrum of inherited gray matter Degenerative Brain Disorders (DBD) in children: A single-center study [PDF]
Annals of Indian Academy of Neurology, 2023 Objectives: To study the clinical spectrum of inherited gray matter degenerative brain disorders (DBD) in children. Methods: This cross-sectional study evaluated children up to 12 y of age, diagnosed with an inherited gray matter DBD in a tertiary care ...
Ram Prabhu +8 more
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