Page 69 - 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 imaging
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
2/2 1/1 3/3 2/3 1 0 - - - - 2/4 0 2 0 0
3/3 - 0/3 - 0 0 - - - - 4/4 0 4 0 0
- - - - 0 0 - - - - 4/4 0 4 0 1
1/2 1/2 3/3 0/2 0 0 2/4 1 1 0 1/4 1 0 0 0
4/4 2/2 4/4 1/4 1 2 4/4 0 4 0 4/4 1 2 0 2
3/3 1/1 0/2 - 0 1 2/3 1 1 0 3/3 2 1 1 1
- 1/1 0/2 - 0 0 3/3 0 3 0 1/3 1 0 0 0
2/2 - 2/2 2/2 0 0 1/1 0 1 0 2/2 1 2 0 1
2/2 - - - 0 0 2/2 0 2 0 2/2 2 1 1 2
2/2 1/1 1/2 0/1 1 0 2/2 1 1 0 2/2 0 1 1 1
1/1 - 1/1 - 0 0 - - - - 1/2 0 0 0 1
2/2 1/1 2/2 1/1 0 0 1/1 0 1 0 2/2 0 2 0 1
1/1 1/1 1/1 - 0 0 1/1 1 0 0 1/2 0 0 0 1
1/1 1/1 - 0/1 0 0 - - - - 1/1 0 0 1 0
- - - - 0 0 - - - - 1/1 0 0 1 1
1/1 0/1 0/1 - 0 1 1/1 0 1 0 1/1 0 0 1 1
1/1 - 1/1 0/1 0 0 - - - - 1/1 1 1 0 1
- - - - 0 1 1/1 1 0 0 0/1 0 0 0 0
1/1 - - - 0 0 - - - - 1/1 1 0 0 1
1/1 - 0/1 - 0 1 0/1 1/1 1 0 0 1
1/1 - - - 0 0 1/1 0 1 0 1/1 0 1 0 1
1/1 - - - 1 0 - - - - 1/1 1 0 0 1
1/1 1/1 - - 1 1 - - - - 0/1 0 0 0 0
1/1 1/1 1/1 - 1 0 1/1 0 1 0 0/1 0 0 0 0
1/1 - 1/1 - 1 1 - - - - 0/1 0 0 0 0
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