Objective: This study investigated the longitudinal changes of the cortical grey matter in Parkinson’s disease (PD) patients with hemiparkinsonism, with (GBA-positive) and without (GBA-negative) glucocerebrosidase gene (GBA) mutations.

Background: GBA mutations are the greatest genetic cause of PD. Compared with noncarriers, heterozygous GBA-PD patients are characterized by an earlier age-of-onset, a better response to L-Dopa and an increased likelihood to experience cognitive symptoms, neuropsychiatric disturbances, and autonomic dysfunction.

Methods: Eleven GBA-positive PD patients with hemiparkinsonism (Hoehn and Yahr 1.0 or 1.5) were compared with 24 GBA-negative PD patients matched for age, sex, disease duration and severity. Patients underwent clinical and neuropsychological evaluations and MRI scans at baseline and once a year for 3 years. 25 healthy controls underwent evaluations at baseline. The pattern of cortical thinning was investigated in PD patients relative to healthy controls at baseline. Longitudinal cortical changes were assessed in the GBA-positive and GBA-negative PD patients.

Results: At baseline, GBA-positive PD patients showed a greater left side predominant cortical atrophy in motor, frontal, temporal and occipital areas relative to both healthy controls and GBA-negative subjects matched for disease duration and severity. Overtime, the GBA-negative group showed a higher rate of cortical thinning relative to GBA-positive patients; however, the pattern of cortical thinning in GBA-negative cases did not reach the severity shown by GBA-positive patients after 3 years.  

Conclusions: GBA-positive PD patients showed a greater and earlier cortical thinning relative to GBA-negative cases with the same disease duration and severity.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/longitudinal-cortical-thickness-changes-in-gba-positive-relative-to-gba-negative-parkinsons-disease-patients-with-hemiparkinsonism/