Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease

Joe Verghese, Rina F. Goldberg, Robert J. Desnick, Marie E. Grace, James E. Goldman, Sunhee C. Lee, Dennis W Dickson, Isabelle Rapin

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Objective: To describe a case with a new genetic variant of type 3 Gaucher disease presenting with stimulus-sensitive and action myoclonus in the presence of selective dentate abnormalities. Design: Clinical, pathologic, and molecular genetic studies. Selling: Medical school departments. Patient: A 6-year-old girl with type 3 Gaucher disease experienced progressively crippling generalized stimulus-sensitive and action myoclonus. Repeated electroencephalographic examination did not show cortical activity associated with the myoclonus, suggesting its subcortical origin. Neuropathological examination revealed selective degeneration of the cerebellar dentate nucleus and dentatorubrothalamic pathway in the face of essentially complete lack of storage in the brain. Mutation analysis identified the following 2 mutant alleles: one with a V394L mutation and the other with the lesion RecTL (D409H + L444P + A456P + V460V), which resulted from a recombination event, with the pseudogene located 16 kilobases downstream from the structural gene. Conclusion: Given the restricted abnormalities, this genetically unique case provides insight into the pathogenesis of myoclonus and suggests a prominent role for the cerebellar dentate nucleus in its genesis.

Original languageEnglish (US)
Pages (from-to)389-395
Number of pages7
JournalArchives of Neurology
Volume57
Issue number3
StatePublished - Mar 2000

Fingerprint

Gaucher Disease
Cerebellar Nuclei
Myoclonus
Mutation
Pseudogenes
Medical Schools
Genetic Recombination
Molecular Biology
Alleles
Degeneration
Nucleus
Stimulus
Brain
Genes
Genesis
Molecular Genetics
Allele
Medical School
Recombination
Pathway

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Verghese, J., Goldberg, R. F., Desnick, R. J., Grace, M. E., Goldman, J. E., Lee, S. C., ... Rapin, I. (2000). Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Archives of Neurology, 57(3), 389-395.

Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. / Verghese, Joe; Goldberg, Rina F.; Desnick, Robert J.; Grace, Marie E.; Goldman, James E.; Lee, Sunhee C.; Dickson, Dennis W; Rapin, Isabelle.

In: Archives of Neurology, Vol. 57, No. 3, 03.2000, p. 389-395.

Research output: Contribution to journalArticle

Verghese, J, Goldberg, RF, Desnick, RJ, Grace, ME, Goldman, JE, Lee, SC, Dickson, DW & Rapin, I 2000, 'Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease', Archives of Neurology, vol. 57, no. 3, pp. 389-395.
Verghese J, Goldberg RF, Desnick RJ, Grace ME, Goldman JE, Lee SC et al. Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Archives of Neurology. 2000 Mar;57(3):389-395.
Verghese, Joe ; Goldberg, Rina F. ; Desnick, Robert J. ; Grace, Marie E. ; Goldman, James E. ; Lee, Sunhee C. ; Dickson, Dennis W ; Rapin, Isabelle. / Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. In: Archives of Neurology. 2000 ; Vol. 57, No. 3. pp. 389-395.
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