Page 91 - 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 Study design
Number of
subjects
with par-
kinsonism
Available for
subgroup
with parkin-
sonism
Age (y)
Specific genetic
diagnosis
Sex (ratio
male:
total)
cohort prospective 4:5 yes x=14.3 1:4 Dopa-responsive
dystonia (TH
(n=3); SPR (n=1))
case
retrospective 1:5 no r: 2-9m unknown Dopamine trans-
series
porter deficiency
syndrome/
SLC6A3
cohort prospective 10:49 yes x=54 8:10 Down syndrome
cohort cross-
5:14 no x=59.8 ±6.7 34:54 Down syndrome
sectional
cohort prospective 11:12 yes x=28.1
4:12 Dravet syndrome
(r: 20-43)
2
cohort retrospective 4:62 no x=49.7
± 8.0
4:4 Fragile X syn-
drome
cohort prospective 4:16 yes 21 3:4 Glutaric aciduria
case-
control
cross-
sectional
type 1
8:9 no 19.1 8:9 juvenile neuronal
ceroid lipofusci-
nosis
case-
control
cross-
sectional
?:17 no unknown unknown juvenile neuronal
ceroid lipofusci-
nosis
case-
control
experimental ?:21 no x=15 at start
treatment
9:21 juvenile neuronal
ceroid lipofusci-
nosis
case-
control
case-
control
cross-
sectional
3:16 no x=37.6±13.7
(r: 17-60)
retrospective 7:8579 yes x=56±5.2 4:7 Neurofibromato-
16:16 Klinefelter syn-
drome
sis type I
case
series
retrospective 13:23 yes x= 58.9
(r:40-75)
6:13 POLG
case
series
retrospective 4:12 yes r:27-40 4:4 Rett syndrome/
MECP2
cohort prospective ±13:32 no r:30m-28y 0:13 Rett syndrome/
MECP2
cohort cross-
sectional
5:30 no x=14.3
(r 4-27)
retrospective 1:5 no 27.5 unknown Spastic paraple-
case
series
case
series
retrospective 5:5 no r:14-58 5:5 X-linked par-
unknown Spastic paraple-
gia type 11
gia type 11
kinsonism with
spasticity / AT-
P6AP2
89