Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations

Objectives: The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+] and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls. Results: In all groups of patients, except asymptomatic carriers of heterozygous GBA mutations (mean +/- SD: 0.16 +/- 0.03 cm(2)), the maximal areas of substantia nigra hyperechogenicity (aSN-max) was higher (GD+PD+: 0.28 +/- 0.15 cm(2); GD+PD : 0.18 0.06 cm(2); GBA+PD+: 0.27 0.06 cm(2); sPD: 0.28 0.10 cm(2)) when compared to controls (0.12 0.08 cm(2)) (p = 0.001). In GBA-associated PD (GD+PD+ and GBA+PD+) and sPD, aSNmax values were very similar. Moderate or marked SN hyperechogenicity was present in 87.5% of sPD patients and in 83% of PD patients with heterozygous GBA mutations, but in only 11.6% of controls, and in 22.2% and 333% of patients from GBA+PD and GD+PD groups, respectively (p <0.001). The prevalence of interrupted or missing echogenicity of the brainstem raphe differed between the groups (p = 0.046), while no difference was observed in the diameter of the third ventricle. Conclusions: TCS findings in GBA-associated PD were consistent to those of patients with sporadic PD. (C) 2013 Elsevier Ltd. All rights reserved.