Table 1.
Major genetic determinants of PD
Genes | Inheritance | Prevalence | Phenotype | Lewy bodies |
---|---|---|---|---|
GBA1 | Risk factor/AD | 5–15% of all PD (up to 20% in Ashkenazi Jews) | Early and late onset PD. Increased risk of dementia and dysautonomia | + |
LRRK2 | Risk factor/AD | 1–5% of all PD (up to 15% in Ashkenazi Jews and 40% in North African Berbers) | Late onset typical | ± |
SNCA | AD | Rare | Early and late onset | + |
VPS35 | AD | Extremely rare | Late onset typical | ? |
PRKN | AR | ~10% of early-onset PD | Early onset typical | − |
PINK1 | AR | ~5 of early-onset PD | Early onset typical | ± |
PARK7 (DJ-1) | AR | Rare | Early onset atypical | + |
VPS13C | AR | Extremely rare | Early onset atypical | + |
‘Rare’ means <1% of all PD patients, ‘Extremely rare’ means <0.1% of all PD patients, early-onset PD = onset <50 years of age, late-onset >50 years of age.