Page 87 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
Patient characteristics
Study design
Number of
subjects with
parkinsonism
Age (y) Sex Specific genetic diagnosis
female case report 1 29 female PPP2R5D
case report 1 14 female Rapid-onset dystonia-parkinsonism
case report 1 17 male Spastic paraplegia type 15
case series 4 25 male SYNJ1
31 female SYNJ1
35 male SYNJ1
61 female SYNJ1
case series 2 29 44 male female PPP2R5D
2
SYNJ1
39 SYNJ1
case series 2 47 male SYNJ1
31 female SYNJ1
case series 2 31 male SYNJ1
27 female SYNJ1
case series 2 32 male SYNJ1
22 female SYNJ1
case series 2 30 male SYNJ1
47 female SYNJ1
case series 2 23 male SYNJ1
24 female SYNJ1
case series 2 35 female SYNJ1
30 male SYNJ1
case series 2 52 female SYNJ1
54 male SYNJ1
85