In addition to the Global Gastric Cancer Registry, Invitae will be partnering with four other advocacy groups: The Bow Foundation, a registry aimed at gathering data on the GM2 Gangliosidoses
, the RASopathies Network, and the Spastic Paraplegia Foundation..
including Tay-Sachs disease [TSD, Online Mendelian Inheritance in Man (OMIM) 272800], Sandhoff disease (SD, OMIM 268800) and GM2 activator protein deficiency (GM2; OMIM 272750) are rare lysosomal storage disorders of the sphingolipid metabolism due to an autosomal recessive inheritance.
Harzer, "Gangliosides and gangliosidoses
: principles of molecular and metabolic pathogenesis," The Journal of Neuroscience, vol.
The rest of cases belonged to the third category with involvement of both gray and white matter as in one case of Canavan's and one case of Alexander's disease, two cases of Gangliosidoses
, one case of Glutaric aciduria and thirteen cases of Leigh's disease.
Genotypic and phenotypic characterization of Brazilian patients with [G.sub.M1] gangliosidoses
Table Medical causes of visual hallucinations in children and adolescents Medical condition Symptom Neurologic Migraine withaura; migraine coma; familial hemiplegic migraines; temporal or occipital lobe seizures; ictal, postictal, or interict al psychosis; tumors inoccipital ortemporal lobes Ophthalmologic Cataracts, retinal diseases, glaucoma Inborn errors Homocysteine remethylation defects: urea cycle of metabolism disorders: GM2 gangliosidoses
: Niemann-Pick disease, type C: alpha mannosidosis Delirium Metabolic disturbance, infection, intracranial process Metabolic Cardiopulmonary insufficiency, uremia, hepatic encephalopathy disease, vitamin deficiencies, inflammatory disease Source: References 4,5 Urine drug screens should be conducted for all adolescents and children.
The GM2 gangliosidoses
. In: Scriver CR, Beaudet Al, Sly WS, Vale DV, editors.
Broad categories include MPS, [GM.sub.2] gangliosidoses
, neutral glycosphingolipidoses, glycoproteinoses, mucolipidoses, leukodystrophies, glycogen storage diseases, disorders of neutral lipids, and disorders of protein transport or trafficking (22, 23).
Despite extensive variability in findings among studied patients, bilateral symmetric thalamic changes have been found to be an early, predictable finding that is probably specific to the [GM.sub.2] gangliosidoses
, such as Sandhoff 's disease, and may be useful in determining whether to perform more specific investigations in infants suspected of having a neurodegenerative disease.
Tifft provided information about gangliosidoses
(GANG-lee-oh-sih-DOE-sees), including GM1 gangliosidosis, the diagnosis of the Hall children.
(18) Clinical phenotypes similar to ALS have been found in some human GM2 gangliosidoses
where GM2 accumulates in motor neurons.