Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease

M. C. Patterson, M. Horowitz, R. B. Abel, J. N. Currie, K. T. Yu, C. Kaneski, J. J. Higgins, R. R. O'Neill, P. Fedio, A. Pikus, R. O. Brady, N. W. Barton

Research output: Contribution to journalArticlepeer-review

103 Scopus citations


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, under-weight, 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.

Original languageEnglish (US)
Pages (from-to)1993-1997
Number of pages5
Issue number10
StatePublished - Oct 1993

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease'. Together they form a unique fingerprint.

Cite this