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At least 145 records · Page 8Linked to original sources
PubMed1977

Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O).

The urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O) contains 10--12 N-acetylglucosamine-rich oligosaccharides in high amounts. The structures of seven of these have been determined: beta-GlcNAc(1--2)-alpha-Man-(1--3)-beta-man-(1--4)-GlcNAc; beta-GlcNAc-(1--4)-alpha-Man-(1--3)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--6)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--4)-alpha-Man-(1--6)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--3)-[beta-GlcNAc-(1--2)-alpha-Man-(1--6)]beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--3)[beta-GlcNAc-(1--2)-alpha-Man-(1--6)][beta-GlcNAc-(1--4)]beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man(1)-(1--3)[beta-GlcNAc-(1--2)-alpha-Man(2)-(1--6)]beta-Man-(1--4)-GlcNAc, with additional beta-GlcNAc, with additional beta-GlcNAc-(1--4) on mannose (1) or (2). An unusual oligosaccharide, with a tri-branched beta-mannose, has been characterized as the major component excreted in urine.

Acetylglucosamine↗
PubMed1977

Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.

During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his ilness, we are reporting an atypical juvenile case of Sandhoff disease.

Age Factors↗
PubMed1975

[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)].

The diagnosis of GM2-gangliosidosis type 2 (Sandhoff's disease) was made prenatally (23rd week of pregnancy) by amniocentsis. A sibling with "Tay-Sachs disease" had died shortly before. Severe deficiency of total beta-hexosaminidase was found in amniotic fluid and amnion-cell culture. After interruption of the pregnancy the enzyme defect was also found in the fetal brain tissue and the concentration of ganglioside GM2 was three times normal, confirming the diagnosis.

Amniocentesis↗
PubMed2005

Dysautonomic achalasia in two siblings with Sandhoff disease.

Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism.

Autonomic Nervous System Diseases↗
PubMed1995

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.

Aged↗
PubMed1987

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.

Two adult sisters with severe spinocerebellar degeneration were deficient in hexosaminidase A and B. GM2 ganglioside storage in brain tissue obtained by autopsy from one patient was most pronounced in the cerebellum. Hexosaminidase activity in brain tissue was negligible, but fibroblasts from the second patient contained relatively high amounts of heat-labile activities of both isoenzymes. Pulse-chase experiments showed synthesis of precursor alpha- and beta-chains of hexosaminidase, maturation of the alpha-chain, but only a very small amount of mature beta-chain. These data indicate a destabilizing mutation in the beta-locus. Substrate-specific effects of this mutation were demonstrated by the urinary oligosaccharide pattern.

Adult↗