The GM2 gangliosidosis are a group of metabolic disorders in which deficiency of a lysosomal enzyme, hexosaminidase A (Hex A), leads to an abnormal intracellular accumulation of lipids in neurons and glia. Total deficiency is responsible for a fatal infantile disorder, Tay-Sachs disease, characterized by involution in motor abilities, hypotonia, seizures and cortical blindness, with death aroun...

Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., and Stephens, R. (1973). Archives of Disease in Childhood, 48, 775. Late onset GM2-gangliosidosis: clinical, pathological, and biochemical studies on 8 patients. Eight cases of late onset Gm,-gangliosidosis are described. 4 presented before the age of 2 years and 4 between 3j and 10 years. Gait disturbance, intell...

BACKGROUND Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. METHODS In this study, we examined 31 patients for TSD-causing mu...

A generalized dilaton action is considered of which the standard dilaton black hole and spherically reduced gravity are particular cases. The Arnowitt-Deser-Misner (ADM) and the Bondi-Sachs (BS) mass are calculated. Special attention is paid to both the asymptotic conditions for the metric as well as for the reference space-time. For the latter one we suggest a modified expression thereby obtai...