Table 1 Simplified overview of some of the genes implicated in Parkinson’s disease

Autosomal dominant forms of PD

SNCA

PARK1 and PARK 4

Missense mutations: A53T, A30P, E46K, G50D

Duplications and triplications

YOPD, atypical and severe phenotypes depending on the specific mutation (i.e. triplications give a more severe phenotype)

probably high, > 90% for A53T, unknown for others

LRRK2

PARK8

G2019S: a missense mutation which is a frequent determinant of familiar and sporadic PD

R1441G, Y1699C, I2020T

Classical (late-onset) PD

G2019S: 25–74%

GBA1

–

Mutations in GBA1 gene (NM_000157.3), also associated with Gaucher disease: N370S, S2716, L444P

GBA1 variants (not associated with Gaucher disease)

Classical PD but with a slightly earlier onset age, severe motor impairment and higher prevalence of dementia and RBD

N370S, S2716: low risk, 7.6%

L444P: high risk, 11–29.7%

Autosomal recessive forms of PD

Parkin

PARK2

YOPD

100%

PINK1

PARK6

YOPD

100%

DJ-1

PARK7

YOPD

100%