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The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase.The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.
Galactosidases are enzymes that break down GM1, and the failure to remove GM1 results in GM1 gangliosidosis. [3] GM1 gangliosidosis are inherited disorders that progressively destroy neurons in the brain and spinal cord as GM1 accumulates. Without treatment, this results in developmental decline and muscle weakness, eventually leading to severe ...
GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers .
Levels of anti-GM1 antibodies are especially elevated in patients with prodromal diarrhea. [7] Titers to GM1 in other diseases (rheumatoid arthritis, primary Sjögren's syndrome and systemic lupus erythematosus) was also elevated. [8] Additionally highly significant association was found with rheumatoid arthritis and peripheral neuropathies. [9]
Anything that affects brain function (including stroke or other conditions that compromise blood flow) can cause cognitive issues and even dementia. Vascular dementia can happen after a stroke ...
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. [1] [2] These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, [1] and some oligosaccharides.
Frontotemporal dementia (FTD) is an all-encompassing term for a group of diseases that impact the brain’s frontal and temporal lobes — the areas associated with personality, behavior and ...
The term young onset dementia is becoming more widely used to avoid the potential confusion between early onset dementia and early stage dementia. This term is now used as presenile dementia which is a historical term of people diagnosed with dementia from a younger age of 51 years old. This is caused by an atypical arteriosclerosis of the brain.