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Journal of Child Neurology
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31Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease

Ursula Felderhoff-Mueser, MD

Department of Neonatology Charité Children's Hospital Humboldt University Berlin, Germany

Jürgen Sperner, PhD

Department of Pediatrics Medical University of Luebeck Luebeck, Germany

Paul Konstanzcak

Department of Pediatrics Medical University of Luebeck Luebeck, Germany

Ruth Navon, PhD

Department of Human Genetics Sackler School of Medicine Tel Aviv, Israel

Bernhard Weschke, MD

Department of Pediatric Neurology Charité Children's Hospital Humboldt University Berlin, Germany

The late-onset form of GM2 gangliosidosis (Tay-Sachs disease) is an autosomal-recessive disorder with progressive neurologic disease, mainly characterized by motor neuron and spinocerebellar dysfunction. The majority of patients are of Ashkenazi Jewish origin. 31Phosphorus magnetic resonance spectroscopy 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 phosphorus metabolism with a decreased amount of phosphodiesters and membrane-bound phosphates were demonstrated, suggesting an activation of phosphodiesterases by accumulating gangliosides. The clinical findings were well related to the changes in spectroscopically determined metabolites. (J Child Neurol 2001;16:377-380).

Journal of Child Neurology, Vol. 16, No. 5, 377-380 (2001)
DOI: 10.1177/088307380101600514
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