GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort

Vanessa Lythe, Dilan Athauda, Jennifer Foley, Niccolò E. Mencacci, Marjan Jahanshahi, Lisa Cipolotti, Jonathan Hyam, Ludvic Zrinzo, Marwan Hariz, John Hardy, Patricia Limousin, Tom Foltynie*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Background: Recent evidence suggests that glucosidase beta acid (GBA) mutations predispose Parkinson's disease (PD) patients to a greater burden of cognitive impairment and non-motor symptoms. This emerging knowledge has not yet been considered in patients who have undergone deep brain stimulation (DBS); a surgery that is generally contraindicated in those with cognitive deficits. Objective: To explore the long-term phenotypic progression of GBA-associated PD, in a DBS cohort. Methods: Thirty-four PD patients who had undergone DBS surgery between 2002 and 2011 were included in this study; 17 patients with GBA mutations were matched to 17 non-carriers. Clinical evaluation involved the administration of four assessments: The Mattis Dementia Rating Scale was used to assess cognitive function; non-motor symptoms were assessed using the Non-Motor Symptom Assessment Scale for PD; quality of life was measured using the Parkinson's Disease Questionnaire; and motor symptoms were evaluated using part III of the Movement Disorders Society Unified Parkinson's Disease Rating Scale, in on-medication/on-stimulation conditions. Levodopa equivalent doses (LED) and DBS settings were compared with clinical outcomes. Results: At a mean follow-up of 7.5 years after DBS, cognitive impairment was more prevalent (70% vs 19%) and more severe in GBA mutation carriers compared to non-carriers (60% vs 6% were severely impaired). Non-motor symptoms were also more severe and quality of life more impaired in GBA-associated PD. Motor symptoms, LED, and stimulation settings were not significantly different between groups at follow-up. Conclusions: GBA status appears to be an important predictor for non-motor symptom disease progression, after deep brain stimulation surgery.

Original languageEnglish (US)
Pages (from-to)635-644
Number of pages10
JournalJournal of Parkinson's disease
Volume7
Issue number4
DOIs
StatePublished - 2017

Keywords

  • Deep brain stimulation
  • Parkinson's disease
  • glucosidase beta acid
  • phenotype

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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