title: Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
abstract: OBJECTIVE
  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 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.
  
  
  CONCLUSIONS
  TCS findings in GBA-associated PD were consistent to those of patients with sporadic PD.
authors: Clinic for Neurology CCS, School of Medicine, University of Belgrade, Serbia.
authors: Nikola
authors: N
authors: Kresojević
authors: Milija
authors: M
authors: Mijajlović
authors: Stojan
authors: S
authors: Perić
authors: Aleksandra
authors: A
authors: Pavlović
authors: Marina
authors: M
authors: Svetel
authors: Milena
authors: M
authors: Janković
authors: Valerija
authors: V
authors: Dobričić
authors: Ivana
authors: I
authors: Novaković
authors: Milan B
authors: MB
authors: Lakočević
authors: Christine
authors: C
authors: Klein
authors: Vladimir S
authors: VS
authors: Kostić
mesh_terms: D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D017585:Ultrasonography, Doppler, Transcranial
chemical_list: D005962:Glucosylceramidase