Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations |
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Authors: | Nikola Kresojevi? Milija Mijajlovi? Stojan Peri? Aleksandra Pavlovi? Marina Svetel Milena Jankovi? Valerija Dobri?i? Ivana Novakovi? Milan B Lako?evi? Christine Klein Vladimir S Kosti? |
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Institution: | 1. Clinic for Neurology CCS, School of Medicine, University of Belgrade, Serbia;2. Clinic for Endocrinology CCS, Belgrade, Serbia;3. Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany |
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Abstract: | ObjectivesThe 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.ResultsIn all groups of patients, except asymptomatic carriers of heterozygous GBA mutations (mean ± SD: 0.16 ± 0.03 cm2), the maximal areas of substantia nigra hyperechogenicity (aSN-max) was higher (GD+PD+: 0.28 ± 0.15 cm2; GD+PD?: 0.18 ± 0.06 cm2; GBA+PD+: 0.27 ± 0.06 cm2; sPD: 0.28 ± 0.10 cm2) when compared to controls (0.12 ± 0.08 cm2) (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 33.3% 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.ConclusionsTCS findings in GBA-associated PD were consistent to those of patients with sporadic PD. |
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