Neurological features of 32 patients with Gaucher disease and genotype L444P/L444P
| Case | Eye movements | SSEP/VEP | BAER | Seizures | EEG | Neuropsychological assessment* | Other findings |
|---|---|---|---|---|---|---|---|
| BAER, brain stem auditory evoked response; DBS, diffuse background slowing; HSNP, horizontal supranuclear palsy; NA, not available; SSEP, somatosensory evoked potential; VEP, visual evoked potential. Mental retardation (full scale IQ/DQ): borderline: 70–80, mild: 50–69, moderate: 35–49, severe: 20–34.43 | |||||||
| *WISC-III, WISC-IV (Wechsler Intelligence Scale for Children), WAIS-R (Wechsler Adult Intelligence Scale), WPPSI-III (Wechsler Preschool and Primary Scale of Intelligence) unless otherwise stated; †VABS (Vineland Adaptive Behavior Scale) administered. | |||||||
| 1 | HSNP | NA | NA | No | Epileptiform activity | NA | No |
| 2 | HSNP | NA | NA | No | Increased photic response | NA | No |
| 3 | HSNP | NA | NA | No | Increased photic response | NA | No |
| 4 | HSNP | NA | Abnormal | Generalised seizures | Epileptiform activity | NA | No |
| 5 | HSNP | NA | NA | No | DBS | NA | No |
| 6 | HSNP, vertical gaze palsy | NA | NA | Generalised seizures | Epileptiform activity | NA | Ataxia, myoclonus |
| 7 | NA | NA | NA | No | NA | NA | No |
| 8 | NA | NA | NA | No | NA | NA | No |
| 9 | HSNP | Abnormal | Normal | No | DBS | Normal | No |
| 10 | HSNP | Normal | Normal | No | Normal | Normal | No |
| 11 | HSNP | Abnormal | Normal | No | Normal | Normal | No |
| 12 | HSNP, nystagmus | Abnormal | Abnormal | No | Epileptiform activity | Mild | No |
| 13 | HSNP | Normal | Abnormal | No | Normal | Normal | No |
| 14 | HSNP | NA | NA | No | Normal | Mild | No |
| 15 | HSNP | NA | NA | No | DBS | Severe, unable to test | No |
| 16 | HSNP | Normal | Normal | No | DBS | Normal | No |
| 17 | HSNP | Normal | Normal | No | DBS, increased photic response | Normal | No |
| 18 | NA | NA | NA | No | Normal | NA | No |
| 19 | NA | NA | NA | No | Normal | NA | Dementia, ataxia, spasticity |
| 20 | NA | NA | NA | No | Normal | NA | Dementia, ataxia, spasticity |
| 21 | HSNP | Normal | Abnormal | No | DBS | Mild | No |
| 22 | HSNP | Normal | Abnormal | Generalised seizures | DBS | Normal† | Ataxia |
| 23 | HSNP | NA | NA | NA | DBS | Borderline | No |
| 24 | HSNP | Normal | Normal | No | DBS | Mild | No |
| 25 | HSNP | Normal | Abnormal | No | DBS | Moderate | Clonus |
| 26 | HSNP | Normal | Normal | No | DBS | Normal | No |
| 27 | HSNP | Normal | Normal | No | Normal | Normal | No |
| 28 | HSNP | Normal | Abnormal | No | Normal | Borderline | No |
| 29 | HSNP | Normal | Normal | Generalised seizures | Epileptiform activity | Severe† | Bulbar signs |
| 30 | HSNP | Normal | Abnormal | Generalised seizures(onset age 18) | DBS | Mild | No |
| 31 | HSNP | Normal | Normal | No | NA | Mild | No |
| 32 | HSNP | Normal | Abnormal | Petit-mal seizures(onset age 6) | DBS, spike-wave activity | Moderate | Myoclonus |