Landing gave the first definitive description of gangliosidosis1 gm1 in 1964, which had variously been called hurler variant, pseudohurler. The number of web sites offering healthrelated resources grows every day. The three major forms of gm2 gangliosidosis include taysachs disease and its variants due to a hex a deficiency also known as the b types. Although the types differ in severity, their features may overlap. It has a similar pathology to sandhoff disease and taysachs disease.
The third variant of gm2 gangliosidosis, known as ab variant omim272750, is rarely encountered and only nine cases are reported till date world wide as described in table 1. Gm1gangliosidosis is a neurodegenerative condition with a phenotypic spectrum that has been classified into three main clinical forms based on onset age and severity. Ab gm1 gangliosidosis describes a family of disorders that result from deficient activity of the lysosomal hydrolase. Gm1 gangliosidosis genetic and rare diseases information. Only seven mutations in nine cases have been reported from different population except india. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement. All forms of gm2 gangliosidosis are characterized by rapid degeneration of the central nervous system, consisting of the brain and spinal cord. Taysachs disease, sandhoff disease, and ab variant, all of which are fatal except in very rare lateonset cases. Gm2gangliosidosis, ab variant project gutenberg self. Gm2 gangliosidosis, ab variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator. Biochemical characterization of the gm2 gangliosidosis b1 variant. Gm2gangliosidosis variant ab, also known as taysachs disease ab variant, is the rarest form of gm2gangliosidoses. Storage diseases are those in which a cell is genetically inherited unable to manufacture a particular enzyme. The topic variant 0 of gm2gangliosidosis you are seeking is a synonym, or alternative name, or is closely related to the medical condition sandhoff disease.
Gm2gangliosidosis, ab variant genetics home reference. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations. Test gm2gangliosidosis variant ab via the gm2a gene. The purpose of this study was to delineate the natural history of the condition and identify genotypephenotype correlations that might be helpful in predicting the course of the disease in individual. Gm2gangliosidosis, ab variant is a rare inherited disorder that progressively destroys nerve cells neurons in the brain and spinal cord.
Signs and symptoms of the ab variant become apparent in infancy. Case presentationpresent case is a one year old male born to 3rd degree consanguineous indian parents from. A documentary from the perspective of two parents whose child, armand hayes, has been diagnosed with the rare disease gm1. Gm2gangliosidosis, ab variant is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Gm2 gangliosidoses an overview sciencedirect topics. Gangliosidosis1 gm1 is a progressive neurological genetic disorder caused by the absence of a vital enzyme. Gm1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells neurons in the brain and spinal cord. A very rare inherited disorder where the brain and spinal cord nerve cells central nervous system are progressively destroyed.
Gm2gangliosidosis b b1 ab variant, sandhoff disease, taysachs disease cassie bebout is an auburn university undergraduate student, on track to graduate this may. Clinical and neuropathological studies of a case of ab variant gm2gangliosidosis have been presented. This form of gm2 gangliosidosis is indistinguishable from infantile form of taysachs disease due. Gm2 activator deficiency gm2gangliosidosis ab variant hexosaminidase activator deficiency taysachs disease ab variant. Gm2gangliosidosis, ab variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Doug martin and his research in gm1 gangliosidosis. Although the three types differ in severity, their features can overlap significantly. Ab variant gm2 gangliosidosis a bibliography and dictionary for physicians, patients, and genome researchers philip m. This is a next generation sequencing ngs test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of gm2gangliosidosis, ab variant.
More detailed information about the symptoms, causes, and treatments of gm2gangliosidosis, ab variant is available below symptoms of gm2gangliosidosis, ab variant. Gm2gangliosidosis variant 0, a lysosomal storage disorder, is also known as sandhoff disease. Gm1 gangliosidosis is an inherited disorder that progressively destroys nerve cells neurons in the brain and spinal cord. Clinical, neuropathological, and biochemical studies are reported in two children with the abvariant of gm2gangliosidosis. Sandhoff disease with a deficiency of both hex a and hex b also called the o type. Prevalence and incidence of gm2gangliosidosis, ab variant. Gm2gangliosidosis, ab variant is a rare inherited disorder that progressively destroys nerve cells neurons in the brain and spinal cord signs and symptoms of the ab variant become apparent in infancy. Gangliosidosis definition of gangliosidosis by medical. Gm2 gangliosidosis is also known as sandhoff disease or gm2 gangliosidosis variant 0. Gm2 gangliosidosisab variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of gm2 activator protein.
In generalized gangliosidosis, a hereditary defect in. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Gm2gangliosidosis, b, b1, ab variant genetic and rare. The natural history of juvenile or subacute gm2 gangliosidosis. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. The clinical manifestations and laboratory findings in the patient were investigated. They all presented with the acute form of gm2 gangliosidosis, which is clinically undistinguishable from the classical acute forms. Gm1 gangliosidosis, or landing disease, is a rare inherited neurodegenerative lysosomal storage disorder characterized by severe cognitive and motor developmental delays resulting in the death of most patients at a very young age. The term incidence of gm2gangliosidosis, ab variant refers to the annual diagnosis rate, or the number of new cases of gm2gangliosidosis, ab variant diagnosed each year. There are two distinct genetic causes of the disease. Gm2gangliosidosis b variant hexa deficiency hexosaminidase a deficiency taysachs disease taysachs disease pseudoab variant taysachs disease variant b1 tsd. It is due to deficiency of the gm2 activator protein.
Gm1 gangliosidosis is caused by a deficiency of betagalactosidase1. The patient was a 14 months old black female infant who had black cherry spot in the retinas. Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. Gangliosidosis is caused by a deficiency in the enzyme acid betagalactosidase1 and results in the accumulation of ganglioside in the tissues. Only six cases, confirmed by molecular genetic analysis, have been reported in the literature. B variant gm2 gangliosidosis definition in the cambridge.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This article includes discussion of gm2 gangliosidoses, familial amaurotic idiocy, hexa deficiency, hexb deficiency, sandhoff disease, taysachs disease, b variant of gm2 gangliosidoses, b1 variant of gm2 gangliosidoses, o variant of gm2 gangliosidoses, and ab variant of gm2 gangliosidoses. She chose the school for one primary reason it is the home of dr. To determine the clinical features and biochemical basis of the first japanese patient with the gm2 gangliosidosis ab variant. The clinical and biochemical phenotype of the ab variant is very similar to that of classic taysachs disease see 272800 gravel et al. Sandhoff disease is a rare, inherited disorder autosomal recessive that occurs due to an enzyme deficiency. The gene for betagalactosidase1 gbl1 is located on the short arm of chromosome 3, and specific mutations are responsible for the different phenotypes. The gm2a gene provides instructions for making a protein called the gm2 activator. They studied a single patient with a third form they called variant ab, because both hexa and hexb are increased in amounts. The three traditional subgroups of infantile, juvenile, and adult gm1 gangliosidosis show phenotypic. Ab variant gm2gangliosidosis a bibliography and dictionary for physicians, patients, and genome researchers philip m. This section provides resources to help you learn about medical research and ways to get involved.
The condition may be classified into three major types based on the general age that signs and symptoms first appear. Gm2 gangliosidosis variant 0 cag center for animal. Gm2gangliosidosis, ab variant gm2a single gene test. Cultured fibroblasts from the patient were analyzed by means of immunofluorescence staining with an antigm2 ganglioside monoclonal antibody and thinlayer. This form of gm2 gangliosidosis is indistinguishable from infantile form of taysachs disease due to its phenotypic similarity. Gm1gangliosidosis and morquio b disease are rare lysosomal storage disorders caused by deficiency of the. It is a neuromuscular disease, and clinical signs can be seen in affected kittens between 68 weeks of age. Gm2gangliosidosis, ab variant genetics home reference nih. Backgroundgm2 gangliosidosis ab variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of gm2 activator protein resulting from the mutation in gm2a gene. Juvenile gm2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal. Cultured fibroblasts from the patient were analyzed by means of immunofluorescence staining with an anti gm2 ganglioside monoclonal antibody and thinlayer.
Three types of tsd are described infantile, juvenile, and adult, which is characterized by a pseudodeficiency mutation in one or both hexa alleles g m2 gangliosidosis b1 variant g m2 gangliosidosis ab variant hexosaminidase activator deficiency is caused by absence. B variant gm2 gangliosidosis meaning in the cambridge. The three diseases are classified together as the gm2 gangliosidoses, because each disease represents a distinct molecular point of failure in the activation of. No recent searches yet, but as soon as you have some, well display them here. Okada and obrien 1968 demonstrated that betagalactosidase deficiency is the fundamental defect in generalized gangliosidosis. Obrien 1969 found that all 3 isoenzymes of acid betagalactosidase, a, b and c, were grossly deficient in all tissues. It is caused by mutations in the glb1 gene, which encodes an enzyme called betagalactosidase necessary for the recycling of.
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