Patients with Gaucher's disease show symptoms similar to early features of PD

People with a mutation in one of their copies of the GBA gene have previously been shown to be at an increased risk of Parkinson's disease. When people have mutations in both of their copies of the GBA gene, they may suffer from a condition called Gaucher's disease, and may also be at increased risk of developing future PD. In the study below, patients with Gaucher's disease demonstrated some symptoms (such as sleep problems, constipation and depression) which are also early symptoms of Parkinson's. None of the patients in this study have yet developed PD, but perhaps focusing on patients with Gaucher's disease could be a way to identify a group of patients at particularly high risk of developing PD, and an opportunity to intervene early with neuroprotective treatments.

Eur Neurol. 2016 Jun 25;76(1-2):19-21. [Epub ahead of print]

Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.

Gatto EM1, Etcheverry JL, Sanguinetti A, Cesarini M, Fernandez Escobar N, Drelichman G.

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Abstract

Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 patients with type 1 GD under enzymatic replacement therapy from a cohort of the Hospital Ricardo Gutierrez GD Study Group in Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by Montreal Cognitive Assessment (MoCA) and a questionnaire performed ad hoc, to identify non-motor PD symptoms. Parasomnias were reported by 7 patients (26.92%), rapid eye movement behavior disorders in 2 (7.69%), constipation in 2 (7.69%), hyposmia in 1 (3.84%), tremor in 1 (3.84%), and depression in 3 cases (11.53%). MoCA assessment was abnormal in 44.44% of patients. No patient fulfilled PD diagnostic criteria (Queen Square Brain Bank criteria). The identification of prodromal markers of PD in type 1 GD suggests that this population represents a very interesting cohort for identifying potential biomarkers and neuroprotective therapies for PD.

© 2016 S. Karger AG, Basel.

PMID:

 

27344356

 

DOI:

 

10.1159/000447510