Table 3.
Clinical characteristics of RAB32 S71R heterozygotes
| Country | Father's origin | Mother's origin | Sex | Age, years | Family history of parkinsonism | Age at onset, years | Disease duration, years | Initial symptom | Asymmetry at diagnosis | Diagnosis subtype | Cognition (MMSE score) | Positive response to levodopa | Other characteristics | Shared 0·36 Mb haplotype spanning RAB32 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TUN1 | ||||||||||||||||
| III-3 | Tunisia | Tunisia | Tunisia | Male | 70 | Yes | 60 | 10 | Resting tremor | NA | Tremor | 29 | Yes | NA | Yes | |
| II-3 | Tunisia | Tunisia | Tunisia | Female | ∼98 | .. | 81 | 17 | Resting tremor | NA | Tremor | 15 | Yes | NA | Yes | |
| III-4 | Tunisia | Tunisia | Tunisia | Female | ∼78 | .. | 40 | 39 | NA | NA | NA | 21 | Yes | NA | Yes | |
| TUN2 | ||||||||||||||||
| III-1 | Tunisia | Tunisia | Tunisia | Male | 69 | Yes | 54 | 15 | Resting tremor | NA | Tremor | 17 | Yes | NA | Yes | |
| III-5 | Tunisia | Tunisia | Tunisia | Male | 85 | .. | 63 | 22 | Resting tremor | NA | NA | 17 | Yes | NA | Yes | |
| CAN1 | ||||||||||||||||
| III-2 | Canada, Quebec | French-Canadian | NA | Male | 70 | Yes | 50 | 21 | Postural instability, clumsiness on left side | Yes | Akinetic-rigid | 26 (MoCA after 17 years of disease) | Yes | Melanoma. Hyperlipidemia | Yes | |
| III-3 | Canada, Quebec | French-Canadian | .. | Female | 66* | .. | 51 | 15 | Pain right superior limb | Yes | NA | NA | Yes | Melanoma, died of colorectal carcinoma at 66 y | Yes | |
| TUN3: II-1 | Tunisia | Tunisia | Tunisia | Female | 70 | Yes, brother | 55 | 16 | Akinetic-ridged parkinsonism | Yes | Akinetic rigid | Normal | Yes, with drug-induced dyskinesia | Autonomic dysfunction (constipation and urinary), no oculomotor signs | Yes | |
| CAN2: II-1 | Canada, Saskatchewan | Romania | Germany | Female | 80* | NA | 68 | 12 | Tremor (right leg), progressing to bradykinesia and rigidity within first year | Yes | Mixed | 28 (normal)at 80 years | Amantadine, selegiline, before L-dopa after 9 years | Sparse neurofibrillary tangle pathology | Yes | |
| POL1: II-1 | USA | Poland | Poland | Female | 60 | Yes, both parents | 43 | 17 | Tremor | NA | Tremor | NA | NA | NA | Yes | |
| ITL1: II-1 | Canada, British Columbia | Italy | Italy | Female | 70 | Yes, mother unspecificed disease, onset 37 years | 60 | 10 | Bradykinesia | NA | NA | NA | Yes | NA | Yes | |
| FRA1: II-1 | France | Turkey | NA | Female | NA | No | 44 | NA | Tremor and bradykinesia | NA | NA | 23 (mild cognitive impairment), 13 years post onset | Yes, but dyskinesia and dystonia | Autonomic dysfunction (urinary); high blood pressure and dyslipidemia | Yes | |
| US1: II-1 | USA | European | NA | Male | NA | Yes | 38 | NA | NA | NA | NA | NA | NA | NA | Yes | |
| US2: II-1 | USA | European | NA | Female | NA | Yes | 71 | NA | NA | NA | NA | NA | NA | NA | Yes | |
| US3: II-1 | USA | European | NA | Female | NA | Yes | 72 | NA | NA | NA | NA | NA | NA | NA | Yes | |
| US4: II-1 | USA | European | NA | Male | NA | No | 58 | NA | NA | NA | NA | NA | NA | NA | Yes | |
| UK1: III-1 | UK | European | NA | Female | 66 | Yes, maternal grandmother (onset 63, death 78), maternal uncle (onset 60s) | 60 | 6 | Right-sided rest tremor | Yes | Atypical | NA | Yes | NA | Yes | |
| UK2: II-1 | UK | European | NA | Female | 54 | Yes, father with tremor, brother with a similar presentation of left arm focal dystonia and polyneuropathy | 49 | 40 | Childhood dystonic tremor, upper limbs | Yes | Atypical | NA | NA | Hereditary demyelinating polyneuropathy, positive DaT-SPECT | Yes | |
| GER1: II-1 | Germany | NA | NA | Male | 31 | No | NA | NA | Right leg, then right upper limb tremor | Yes | Tremor | NA | Yes | Micrographia, hyposmia | NA | |
| CAN3: III-1 | Canada, Alberta | European | NA | Female | 44 | Yes, affected sister, father and paternal grandfather | 44 | NA | NA | NA | NA | NA | NA | NA | Yes | |
MoCA=Montreal Cognitive Assessment. MMSE=Mini-Mental State Examination. NA=not available. Conserved, shared 0·36 Mb haplotype spanning RAB32.