Clinical and neurological features of Gaucher carriers with parkinsonism
| Pedigree | Proband with Gaucher disease | Gaucher carriers with parkinsonism | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Sex | Type | Genotype | Relationship to proband | Genotype | Presentation | Age of onset | Age at death | Clinical diagnosis | Course | |
| GD, Gaucher disease; LBD, Lewy body dementia; l-DOPA. levodopa; MSA, multiple system atrophy; NA, not available; PD, Parkinson disease. | ||||||||||
| A | F | 1 | NA | Mother | Obligate carrier | Dementia,tremor | 50s | 60s | LBD | Poor l-DOPA response |
| B | M | 1 | N370S/N370S | Mother | Obligate carrier | Tremor,rigidity | 50s | NA | PD | l-DOPA responsive |
| C | M | 1 | N370S/c.84insG | Father | Obligate carrier | Tremor,rigidity | 57 | – | PD | Some l-DOPA response |
| D | F | 1 | N370S/c.84insG | Paternal uncle | Affected with GD | Tremor,rigidity | 63 | 69 | PD | l-DOPA unresponsive,progressive dementia |
| E | F | 3 | L444P/L444P | Paternal grandfather | Obligate carrier (paternal grandmother confirmed non-carrier) | Dementia,tremor | 45 | 55 | NA | Progressive dementia,depression |
| F | F | 1 | N370S/c.84insG | Maternal grandmother | c.84insG | Dementia,tremor,hallucinations | 59 | – | LBD | Some l-DOPA response,progressive dementia |
| G | M | 3 | N370S/RecNciI | Maternal grandfather | RecNciI/wt | Rigidity,tremor, masked facies | 47 | – | PD | l-DOPA responsive,depression, hallucinations with medication |
| H | F | 1 | NA | Mother | Obligate carrier | Tremor,rigidity | 47 | 60s | PD | l-DOPA unresponsive,progressive dementia |
| I | M | 1 | L444P/L444P | Maternal grandfather | NA | Dementia,tremor | 53 | 56 | MSA | l-DOPA unresponsive,progressive dementia, autonomic dysfunction |
| Fig 1 | M | 3 | L444P/L444P | Father | L444P/wt | Hemitremor, asymmetric arm swing | 41 | – | Tremor | Depression |
| Paternal grandfather | L444P/wt | Tremor,rigidity | 40s | – | PD | l-DOPA responsive | ||||