, Volume 259, Issue 9, pp 1970-1972
Date: 17 Mar 2012

Long-term follow-up of subthalamic nucleus stimulation in glucocerebrosidase-associated Parkinson’s disease

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Dear Sirs,

Heterozygous mutations in the gene encoding the lysosomal enzyme beta-glucocerebrosidase (GBA) are associated with an increased susceptibility to Parkinson’s disease (PD) and dementia with Lewy body disease [1, 2] and some cases with phenotypes similar to multiple system atrophy were reported [3]. GBA mutation carriers generally present with an earlier age at onset and particularly severe motor [2, 5] and non-motor [6] genotype-phenotype relations probably reflecting the more pronounced neocortical Lewy body-type pathology in GBA-associated PD [4]. Therefore, these were predicted to show an unfavorable therapeutic outcome from Deep-brain stimulation of the subthalamic nucleus (STN-DBS). Here, we provide the first quantitative data on the therapeutic outcomes of GBA-associated PD in response to l-Dopa and STN-DBS in a series of three cases followed for up to 10 years.

Ninety-eight PD patients treated with STN-DBS at the Department of Neurology of the Tübingen University between ...