Page 77 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
P. 77
Parkinsonism in GNDs
Patient characteristics
Study design
Sex case series 1 20 male CYTB
case report 1 29 male Dihydropteridine reductase deficiency
case report 1 16 male Dihydropteridine reductase deficiency
case series 2 7 male Dihydropteridine reductase deficiency
22 unknown Dihydropteridine reductase deficiency
case series 3 73 male DNAJC12
59 female DNAJC12
58 male DNAJC12
hidden case Number of
subjects with
parkinsonism
Age (y) female DNAJC12
Specific genetic diagnosis
2
1 13 case series 4 24 female DNAJC6
44 female DNAJC6
31 female DNAJC6
17 male DNAJC6
case series 6 20 female DNAJC6
12 male DNAJC6
10 male DNAJC6
28 female DNAJC6
19 female DNAJC6
18 female DNAJC6
case report 1 14 female DNAJC6
case series 2 13 male DNAJC6
18 male DNAJC6
case report female DNAJC6
1 12 case series 3 76 female Dopa-responsive dystonia
66 male Dopa-responsive dystonia
54 female Dopa-responsive dystonia
case report 1 54 male Dopa-responsive dystonia autosomal
dominant/ Segawa
case series 2 29 male Dopa-responsive Dystonia-
Parkinsonism
57 female Dopa-responsive Dystonia-
Parkinsonism
case report 1 7 male Dopa-responsive dystonia, Sepiapterin
reductase deficiency
case report 1 54 male Down syndrome
case report 1 45 male Down syndrome
case report 1 21 female Down syndrome
75
