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From the Developmental and Metabolic Neurology Branch (Drs. Patterson, Yu, Higgins, O'Neill, Brady, and Barton, and C. Kaneski), Biometry and Field Studies Branch (Dr. Abel), and Medical Neurology Branch (Dr. Fedio), National Institute of Neurological Disorders and Stroke, and the Audiology Section (A. Pikus), National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD; Tel Aviv University (Dr. Horowitz), Tel Aviv, Israel; and the Mental Health Research Institute (Dr. Currie), Melbourne, Australia.
Type 3 neuronopathic Gaucher's disease (GD3) is phenotypically heterogeneous. In many GD3 patients, progressive myoclonus and dementia dominate the illness, with death secondary to progressive CNS disease. We have designated this group as GD3a. We studied 14 children with Gaucher's disease, isolated horizontal supranuclear gaze palsy, and aggressive systemic disease, and designated this group as GD3b. In comparison with 13 children with type 1 non-neuronopathic Gaucher's disease, the GD3b children presented earlier, and were shorter, underweight, and more prone to cardiopulmonary, hepatic, and skeletal complications. One-half of the children died in childhood or adolescence of systemic complications. Patients with at least one copy of the mutation that causes substitution of asparagine for serine at amino acid 370 of glucocerebrosidase did not develop neurologic signs. Patients homoallelic for the mutation causing substitution of leucine for proline at position 444 had severe systemic disease; neurologic signs were frequently, but not invariably, present. Early diagnosis and timely enzyme replacement therapy promise to improve the prognosis in GD3b.
Address correspondence and reprint requests to Dr. Norman W. Barton, DMNB/NINDS, Building 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892.
Presented in part at the 42nd and 43rd annual meetings of the American Academy of Neurology, Miami Beach, FL, May 19901 and Boston, MA, April 19912
Received July 23, 1992. Accepted for publication in final form March 17, 1993.
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