Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in those previously diagnosed with Parkinson’s disease (PD) and assessing if suggestive manifestations of Gaucher’s disease (GD) were found.

Background: PD is the second most frequent neurodegenerative disease after Alzheimer’s disease. GD is the most common genetic risk factor for PD, often associated with earlier onset and more severe cognitive and non-motor symptoms. The link between GD and PD was initially thought as incidental. Around 7–15% of PD patients carry a GBA mutation, being the N370S variant the most common one.

Method: We analyzed demographic, clinical, family history and genetic data of patients with PD between the years of 1985 and 2015. PD was diagnosed based on the patients’ MDS-UPDRS results. Age of onset was defined as the age at which behavioral, cognitive, psychiatric or motor symptoms suggestive of PD were first described. We looked through the patients’ medical records to identify suggestive manifestations of GD.

Results: In seven out of one-hundred-and-seventy-eight patients with PD (3.93%: 4 males and 3 females) the GBA mutation and the L444P variant were found. No further information from two of them was available on their medical records. The remaining five patients were between 31 and 49 years old at the time of the PD diagnosis. The average age of PD onset was 37.8 years old. Onset manifestations showed that all of them had depression as well as tremor, mainly affecting the right hemibody (60%). The second most common symptom was insomnia (60%) and anxiety was the third (40%). Constipation and hyposmia alone were found in two different patients. None of them had any previous family history of PD, although one mentioned having a relative with tremor. Cognitive function was reported as impaired in four patients (80%), although physical examination was described as normal in all of them.

Conclusion: GBA mutations were more often found on male individuals as reported in literature and articles. While PD onset typically presents in patients over 65 years old, our findings showed that those with the GBA mutation express PD onset symptoms earlier, although younger patients had less onset symptoms compared to those who were over 40 years old. Cognitive impairment is usually found prematurely on PD patients who carry a GBA mutation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gba-mutation-linking-parkinsons-and-gauchers-diseases/