Page 67 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
Progression of motor
signs *
Reduced DAT binding
with dopaminergic
Good response anti-
parkinsonian medication
Levodopa-induced
dyskinesia *
Cognitive decline/
Psychiatric symptoms
Proposed main cause of
parkinsonism:
Parkinson’s disease
Genetic
Drug-induced
Co-existing neurologic
disorder:
Epilepsy/seizures
Dystonia
2
Ataxia
Other
33/33 4/4 25/
32
7/
13
6 2 36/
0 35 1 40/43 21 34 1 3
42
11/12 8/
10
11/
16
2/4 5 5 13/
0 13 0 14/22 1 1 10 6
22
4/4 0/1 0/3 0/3 3 2 1/21 0 1 0 8/
0 8 0 0
6/6 8/8 4/5 - 1 3 14/
0 14 0 9/
21
20
0 1 8 0
20/20 3/3 9/17 9/
8 0 20/
16
19/19 5/5 11/
6/8 2 5 19/
11/13 - 16/
17
16
6/
14
0 1 12/
20
20
19
16
6 14 0 15/20 7 11 0 3
5 14 0 11/19 7 2 0 3
0 12 0 13/16 0 10 3 1
2/2 0/2 2/13 0/2 1 0 - - - - 13/13 13 8 0 0
2/2 1/1 1/2 2/2 0 9 9/
9 0 0 1/
1 0 0 -
10/10 5/5 3/10 3/5 0 3 4/
5/5 3/3 5/8 1/4 1 0 7/
11
10
10
0 4 0 7/
11
10
4 3 0 6
0 7 0 2/10 0 1 0 1
8/8 8/8 - - 0 0 - - - - 8/8 8 0 0 0
7/7 1/1 6/6 2/6 1 3 7/7 0 7 0 5/7 1 1 0 3
6/6 3/7 6/7 3/6 1 4 7/7 1 6 0 5/7 0 1 0 4
- - - - 0 0 7/7 0 7 0 5/7 2 0 0 4
1/1 1/2 1/1 - 2 0 3/5 0 2 1 4/5 0 0 3 1
5/5 3/3 4/4 1/2 1 1 5/5 2 3 0 3/5 1 3 0 0
1/1 - - - 5 5 5/5 4 1 0 1/5 0 1 0 -
5/5 4/4 3/4 1/2 2 0 3/5 0 3 0 2/5 0 0 0 2
2/2 1/1 1/1 - 2 0 4/4 0 4 0 2/4 0 1 0 1
4/4 0/2 3/3 2/4 0 3 2/2 0 2 0 1/4 1 0 0 1
1/4 1/3 4/4 3/3 0 2 4/4 0 4 0 1/4 0 1 0 0
65