Table 1 Demographic and clinical characteristics of identified LRRK2 p.L1795F variant carriers
From: The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
Cohort | GP2 | AMP-PD | PDGENE | CANADA | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family ID | GP2-FAM-1 | NA | NA | NA | NA | AMP-FAM-1 | CANADA-FAM-1 | ||||||||||
Sample ID | GP2-ID-1 | GP2-ID-2 | GP2-ID-3 | GP2-ID-4 | GP2-ID-5 | GP2-ID-6 | GP2-ID-7 | GP2-ID-8 | AMP-ID-1 | AMP-ID-2 | AMP-ID-3 | AMP-ID-4 | PDGENE-ID-1 | CANADA-ID-1 | CANADA-ID-2 | CANADA-ID-3 | CANADA-ID-4 |
Genetic method | NBA, WGS | NBA, WGS | NBA, WGS | NBA, WGS | NBA, WGS | NBA | NBA | NBA | WGS | WGS | WGS | WGS | CES | Single gene testing (LRRK2) | |||
Demographics | |||||||||||||||||
Gender | Female | Female | Male | Female | Male | Male | Female | Male | Female | Female | Female | Female | Female | Female | Male | Female | Female |
Genetic ancestry | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | EUR | White | White | White | White |
Age at sample collection | 78 | 74 | 66 | 68 | 42 | 72 | 62 | 76 | 76 | 55 | 54 | 69 | 57 | 76 | 75 | 55 | 54 |
Family history of PD | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes | yes |
Family history details | two children, three sisters, one nephew, several aunts and uncles | three sisters, one niece and two nephews, several aunts and uncles | sister, mother, three maternal aunts | brother, mother, three maternal aunts | aunt, two great uncles | mother, brother | mother, sister | mother | father, two siblings, child | sibling, maternal grand- parent, maternal aunt | maternal grand- prarent, two maternal aunts | mother | maternal grand- mother | father, two siblings, two children | father, two siblings, two nieces | sibling, two maternal uncles, maternal grandfather | sibling, two maternal uncles, maternal grandfather |
Clinical data | |||||||||||||||||
Diagnosis | PD | PD | PD | PD | PD | PD | PD | PD | Control* | Control* | PD* | PD | PD | Control** | PD | PD | PD |
AAO | 55 | 54 | 58 | 50 | 36 | 60 | 57 | 55 | NA | NA | 46 | 65 | 47 | NA | 65 | 66 | 44 |
AAE | 78 | 74 | 67 | 68 | 42 | 72 | 62 | 76 | 76 | 55 | 54 | 69 | 57 | 76 | 75 | 67 | 66 |
Bradykinesia | + | + | + | + | + | + | + | + | NA | NA | + | + | + | - | + | + | + |
Rigidity | + | + | + | + | + | - | + | + | NA | NA | + | + | + | - | - | + | + |
Resting Tremor | + | + | + | + | + | + | - | + | NA | NA | + | + | - | - | + | - | - |
Action/Kinetic Tremor | + | + | + | + | - | + | + | NA | NA | NA | - | + | - | - | - | + | + |
Postural Instability | + | + | - | + | + | - | + | + | NA | NA | - | - | - | - | - | - | + |
Gait Disturbance | + | + | - | + | + | - | - | NA | NA | NA | - | + | - | - | - | - | + |
Asymmetric onset of symptoms | + | + | + | + | + | + | + | NA | NA | NA | + | NA | + | - | + | - | + |
Responsive to dopaminergic medication | + | + | + | + | + | + | + | NA | NA | NA | + | NA | + | NA | NA | NA | + |
Fluctuations | NA | NA | + | + | - | NA | NA | NA | NA | NA | + | NA | + | - | - | - | + |
UPDRS Part III (motor score) | 70 | NA | 10 | 22 | 24 | 6 | 11 | NA | NA | NA | 3 | 32 | 6 | 0 | 6 | 7 | 43 |
Hoehn & Yahr | 5 | 2 | 2 | 2 | 2 | 1 | 1.5 | NA | NA | NA | 2 | 2 | 2 | 0 | 1 | 0 | 3 |
Cognition | MMSE 29 | MMSE 29 | MMSE 30 | MMSE 30 | MMSE 30 | MMSE 30 | MMSE 30 | NA | NA | NA | MoCA 28 | NA | - | MoCA 23 | MoCA 17 | MoCA 29 | MoCA 28 |
Neuro-psychiatric features | NA | NA | - | - | NA | NA | NA | NA | NA | NA | NA | NA | - | NA | NA | - | + |
Dysautonomia | - | - | - | constipation | - | - | - | NA | NA | NA | NA | NA | - | - | - | - | - |
Atypical Features or signs suggestive of other diagnosis (#) | history of head trauma with loss of concious-ness | - | - | - | history of head trauma with loss of concious-ness | - | - | NA | NA | NA | NA | NA | - | - | - | - | - |
