Table 1 Clinical and laboratory data of parkinsonian patients with Gaucher disease (GD)

ExaminationsCase 1Case 2Case 3Case 4
ND = not determined; OMA = ocular movement analysis; VEP = visual evoked potentials; auditory brain responses; SPET = single-photon emission tomography; ERT = enzyme replacement therapy.
Gaucher diagnosis, y22235364
Onset of parkinsonian symptoms, y44435955
Follow-up, y11748
Clinical examination at onset of GD1 symptomsLymphadenomegaly, hepatosplenomegaly, anemia, thrombocytopeniaHepatosplenomegaly, bleeding, anemia, thrombocytopeniaHepatosplenomegaly, anemia, thrombocytopeniaHepatosplenomegaly, anemia, thrombocytopenia
Neurological examination at onset of PD symptomsAsymmetric onset (right), rigidity, and resting tremorAsymmetric onset (right), rigidity, and resting tremorLeft limbs resting tremor and rigidityAsymmetric onset (right) of rigidity, resting tremor, akinesia
Ferritin, ng/mL; normal: man, 28–397; woman, 10–1591320831.61277ND
β-glucosidase, nmol/mg/h; normal: 11.37 ± 2.852.032.151.571.42
EEGSlow left temporal activityDiffuse nonspecific encephalic sufferanceNormalND
VEPLatency normal, reduced amplitudeNormalNormalND
ABRMild latency of I–III wavesMild latency of I–III wavesNormalND
AudiometryPerceptive hearing lossPerceptive hearing lossNormalND
Cerebral RMNMild cortical atrophyMild cortical atrophyNormalND
Cerebral SPETNDLeft basal ganglia hypoperfusionNDND
ERT, alglucerase/imiglucerase, y514458No
l-Dopa efficacyGood transientGood transientGoodGood
Surgical therapyBilateral pallidotomy: transient efficacyDeep brain stimulation: efficacyNoNo
Effect of ERT on PDNoneNoneNoneND