Page 81 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
Patient characteristics
Number of
subjects with
parkinsonism
hidden case case series case series Sex case series 1 77 male NUS1
case report 1 40 male partial 6q trisomy
case report 1 31 female partial 4q trisomy
case series 1 47 female phenylketonuria
case report 1 37 female phenylketonuria
case report 1 56 female phenylketonuria
Age (y) male phenylketonuria
male male case series male male Study design
Specific genetic diagnosis
1 16 1 19 24 female 2
Phosphoglycerate kinase deficiency
case series 3 34 male Phosphoglycerate kinase deficiency
32 male Phosphoglycerate kinase deficiency
42 male Phosphoglycerate kinase deficiency
case report 1 21 male Phosphoglycerate kinase deficiency
case report 1 25 male Phosphoglycerate kinase deficiency
case report 1 48 male Phosphoglycerate kinase deficiency
cohort 5 48 male POLG
81 male POLG
59 male POLG
63 male POLG
69 female POLG
case report 1 16 2 30 POLG
Phosphoglycerate kinase deficiency
Phosphoglycerate kinase deficiency
Phosphoglycerate kinase deficiency
1 48 case report 1 80 female POLG
case series 2 39 male PTRHD1
37 male PTRHD1
case series 2 34 male PTRHD1
30 male PTRHD1
case series 3 26 female PTRHD1
29 female PTRHD1
44 female PTRHD1
case report 1 0 (5d) female Pyruvate carboxylase deficiency
case series 3 67 male RAB39B
94 male RAB39B
79