Page 89 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
P. 89
Parkinsonism in GNDs
Patient characteristics
Study
design Study design
Number of
subjects
with par-
kinsonism
Available for
subgroup
with parkin-
sonism
Age (y)
Sex (ratio
male:
total)
Specific genetic
diagnosis
2
other retrospective 45:45 yes unknown 32:45 22q11.2 deletion
Case-
control/
cohort
prospective 7:82 partially x=44.0 unknown 22q11.2 deletion
case
series
retrospective 1 yes 50 1:1 22q11.2 deletion
cohort retrospective 4:68 yes unknown 3:4 22q11.2 deletion
case-
control
cross-
sectional
9:14 yes x=43.4 ±6.5 5:9 22q11.2 deletion
case
series
retrospective 9:9 yes unknown 8:9 22q11.2 deletion
case-
control
other 8:8 partially unknown 6:8 22q11.2 deletion
cohort Cross-
sectional
7:7 yes M=35
(33-41),
x=35±3.5
case
series
retrospective 3:3 yes M=34 (32-
41), x=36.1
± 3.8
cohort retrospective 19:23 yes M=37,
x=36±8.1
case
series
retrospective 3:3 no M=31
(31-34),
x=32±1.7
0:7 Beta-propeller
protein-associat-
ed neurodegener-
ation/ WDR45
1:3 Beta-propeller
protein-associat-
ed neurodegener-
ation/ WDR45
3:19 Beta-propeller
protein-associat-
ed neurodegener-
ation/ WDR45
0:3 Cerebrotendinous
xanthomatosis
cohort cross-
sectional
5:274 yes x=51.4 3:5 DNAJC6
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