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

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1993-1997
Number of pages5
JournalNeurology
Volume43
Issue number10
StatePublished - 1993
Externally publishedYes

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Gaucher Disease
Paralysis
Neurologic Manifestations
Glucosylceramidase
Enzyme Replacement Therapy
Mutation
Myoclonus
Thinness
Asparagine
Central Nervous System Diseases
Proline
Leucine
Serine
Dementia
Early Diagnosis
Amino Acids
Liver

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Patterson, M. C., Horowitz, M., Abel, R. B., Currie, J. N., Yu, K. T., Kaneski, C., ... Barton, N. W. (1993). Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology, 43(10), 1993-1997.

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. / Patterson, M. C.; Horowitz, M.; Abel, R. B.; Currie, J. N.; Yu, K. T.; Kaneski, C.; Higgins, J. J.; O'Neill, R. R.; Fedio, P.; Pikus, A.; Brady, R. O.; Barton, N. W.

In: Neurology, Vol. 43, No. 10, 1993, p. 1993-1997.

Research output: Contribution to journalArticle

Patterson, MC, Horowitz, M, Abel, RB, Currie, JN, Yu, KT, Kaneski, C, Higgins, JJ, O'Neill, RR, Fedio, P, Pikus, A, Brady, RO & Barton, NW 1993, 'Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease', Neurology, vol. 43, no. 10, pp. 1993-1997.
Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology. 1993;43(10):1993-1997.
Patterson, M. C. ; Horowitz, M. ; Abel, R. B. ; Currie, J. N. ; Yu, K. T. ; Kaneski, C. ; Higgins, J. J. ; O'Neill, R. R. ; Fedio, P. ; Pikus, A. ; Brady, R. O. ; Barton, N. W. / Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. In: Neurology. 1993 ; Vol. 43, No. 10. pp. 1993-1997.
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AB - 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.

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