TABLE 1.
| GENE | Inheritance | Mutation | Typical age of onset (years) | Progression | Prominent symptoms outside of the motor symptoms defining PD | Response to L-DOPA | Lewy Pathology | Citations | |
|---|---|---|---|---|---|---|---|---|---|
| Group I | PARKIN/PARK2 | AR | probable loss of function | 24-40 | slow | dystonia; depression; anxiety; autonomic | Yes | Rare | Kitada et al, 1998; Kahn et al, 2003 |
| PINK1/PARK6 | AR | probable loss of function | 18-56 | slow | dystonia; depression; anxiety; autonomic | Yes | Yes (n=1) | Hatano et al, 2004; Valente et al, 2004; Steinlechner et al, 2007; Samaranch et al, 2010 | |
| DJ-1/PARK7 | AR | probable loss of function | 24-40 | slow | dystonia; anxiety | Yes | Yes (n=1) | Bonifati et al, 2003; Taipa et al, 2016 | |
| ATP13A2/PARK9 | AR | probable loss of function | 10-18 | rapid | Kufor Rakeb Syndrome. supranuclear gaze palsy,spasticity,cognitive decline,pyramid atrophy; psychotic episodes. | Yes | Yes | Ramirez et al, 2006 | |
| FBXO7/PARK15 | AR | probable loss of function | 35-50 | slow | dystonia; spasticity; pyramidal symptoms | Yes (non pyramidal) | ? | Di Fonzo et al, 2009 | |
| VPS13C/PARK23 | AR | probable loss of function | 25-46 | rapid | dysautonomia; cognitive decline; incontinence | Yes | Yes (n=1) | Lesage et al, 2016 | |
| Group II | SNCA/PARK1 and PARK4 | AD | mutation; duplication; change and/or gain of function triplication; gain of function |
35-65 30’s |
variable rapid | cognitive decline; depression; sleep disorders dementia; paranoia; hallucinations |
Yes Yes | Yes Yes |
Polymeropoulos et al, 1997; Ibanez et al, 2004; Chartier-Harlin et al, 2004 Singleton et al, 2003 |
| LRRK2/PARK8 | AD | change or gain of function | 50-65 | slow | depression; sleep disorders; cognitive decline | Yes | not always | Paisan-Ruiz et al, 2004; Zimprich et al, 2004 | |
| VPS35/PARK17 | AD | partial loss of function | 50-52 | slow | Yes | No (n=1) | Vilarino-Guell et al, 2011; Zimprich et al, 2011 | ||
| Group III | DNAJC6/auxillin/PARK19 | AR | probable loss of function | 10-42 | rapid | seizures; pryamidal symptoms;intellectual disability | Mixed | ? | Edvardson et al, 2012 |
| SJ1/synaptojanin/PARK20 | AR | partial loss of function | 20-30 | rapid | generalized seizures; cognitive decline; supranuclear gaze palsy | Yes but develop dyskinesia | ? | Krebs et al, 2013 |