g(m2)-ganglioside and Dementia

An 11-year-old girl died of a neuronal storage disorder that clinically was characterized by failure to thrive and muscular hypotonia from birth, with the subsequent evolution of motor neuron disease, epilepsy, and dementia. A wide range of metabolic disorders, including all forms of GM2 gangliosidosis, could be excluded. Electron microscopy demonstrated neuronal zebra body inclusions, and immunohistochemistry demonstrated that GM2 ganglioside was a major constituent of the storage material. We suggest that the patient died of a lysosomal storage disease that is clinically and biochemically different from Tay-Sachs disease, Sandhoff disease, and other GM2 gangliosidoses described previously. This case also further demonstrates that significant accumulation of GM2 ganglioside, which is crucial for dendritic formation, may occur in neuronal storage diseases lacking known defects in ganglioside catabolism.

Topics: Child; Dementia; Epilepsy, Tonic-Clonic; Failure to Thrive; Female; G(M2) Ganglioside; Humans; Immunohistochemistry; Lysosomal Storage Diseases; Microscopy, Electron; Motor Neuron Disease; Muscle Hypotonia

Ganglioside lipid fractions in the cerebral gray matter were studied in 13 patients with various forms of dementia. In 2 patients with Alzheimer's disease and 1 with senile dementia an abnormal ganglioside pattern was observed, i.e., a decrease of G1 and G3 in association with an increase of G2. In the light of the total clinical and histologic data on the patients, it would seem that this disturbance in ganglioside metabolism may be a phenomenon accompanying extensive degradation of brain tissue rather than a factor in the etiology of dementia.

Topics: Adult; Aged; Alzheimer Disease; Autopsy; Brain; Brain Chemistry; Dementia; Female; G(M2) Ganglioside; Gangliosides; Humans; Male; Middle Aged; Superior Colliculi; Temporal Lobe