(31)Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease

The late-onset form of GM(2) gangliosidosis (Tay-Sachs disease) is an autos omal-recessive disorder with progressive neurologic disease, mainly charact erized by motor neuron and spinocerebellar dysfunction. The majority of pat ients are of Ashkenazi Jewish origin. (31)Phosphorus magnetic resonance spe ctroscopy of the brain was performed to study the metabolic changes of a 16 -year-old patient with late-onset Tay-Sachs disease who had a heterozygous Gly(269)--> Ser mutation in the hexosaminidase A encoding gene in compound heterozygosity with another, yet unidentified mutation. Severe changes in p hosphorus metabolism with a decreased amount of phosphodiesters and membran e-bound phosphates were demonstrated, suggesting an activation of phosphodi esterases. by accumulating gangliosides. The clinical findings were well re lated to the changes in spectroscopically determined metabolites.