RT Journal
A1 Verghese J, Goldberg RF, Desnick RJ, et al
T1 MYoclonus from selective dentate nucleus degeneration in type 3 gaucher disease
JF Archives of Neurology
JO Archives of Neurology
YR 2000
FD March 1
VO 57
IS 3
SP 389
OP 395
DO 10.1001/archneur.57.3.389
UL http://dx.doi.org/10.1001/archneur.57.3.389
AB 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.Setting 
    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.