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gangliosidoses gm2/seizures
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13 risultati
Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation.
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GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient.
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OBJECTIVE
To determine the clinical features and biochemical basis of the first Japanese patient with the GM2 gangliosidosis AB variant.
METHODS
The clinical manifestations and laboratory findings in the patient were investigated. Cultured fibroblasts from the patient were analyzed by means of
AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.
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A child with AB variant GM2 gangliosidosis who had progressive intellectual deterioration and seizures commencing at the age of 12 months is described. Neuronal loss, and neuronal and astrocytic inclusions characteristic of the gangliosidoses, were seen on cortical biopsy. GM2 ganglioside was
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.
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GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase
[Late infantile and juvenile form of GM2-gangliosidosis variant B1].
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BACKGROUND
Variant B1 is a rare form of GM2-gangliosidosis characterized by the presence of a mutation in the hexosaminidase A gene (HEXA) leading to a defect in the catalytic region of the alpha-subunit of beta-hexosaminidase A (alpha beta heterodymer). The mutated Hex A has almost normal activity
Sandhoff disease--a case report of 3 siblings and a review of potential therapies.
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BACKGROUND
Sandhoff disease is a GM2 gangliosidosis that may present within the first 6 months of life with developmental regression. This is the first report of a pedigree from Southeast Asia.
METHODS
All the affected siblings presented in the first year of life with developmental regression,
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
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Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
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BACKGROUND
Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
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BACKGROUND
Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and
Progressive myoclonic epilepsies: it takes a village to make a diagnosis.
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The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death.
Gangliosidoses.
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The gangliosidoses comprise a family of lysosomal storage diseases characterized by the accumulation of complex glycosphingolipids in the nervous system and other tissues, secondary to the deficient activity of lysosomal hydrolases or their associated activator proteins. GM1 and GM2 gangliosidosis
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
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BACKGROUND
The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
METHODS
We report a Saudi family with a neurodegenerative course dominated by
Infantile gangliosidoses: Mapping a timeline of clinical changes.
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Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available
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