Page 71 - 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
Ataxia
Other
2
1/1 - - - - 0 - - - - 1/1 0 1 0 0
1/1 - 0/1 - 0 0 - - - - 1/1 0 0 0 1
1/1 - - - 0 0 - - - - 1/1 0 0 0 1
1/1 1/1 0/1 - 0 0 - - - - 0/1 0 0 0 0
1/1 - 0/1 - 0 0 1/1 0 1 0 1/1 0 0 1 1
1/1 1/1 1/1 - 0 0 1/1 0 1 0 1/1 0 1 1 1
1/1 - - - 1 0 1/1 0 1 0 1/1 0 1 0 0
1/1 - 1/1 - 0 1 1/1 0 1 0 1/1 0 0 1 0
- - 1/1 - 0 0 1/1 1 0 0 1/1 0 0 0 1
- - - - 0 0 1/1 0 1 0 0/1 0 0 0 0
0/1 - - - 0 0 - - - - 1/1 1 0 1 1
20/40 19/20 32/
18/40 9 41 56/
48 8 0 >17/56 16 16 0 1
34
56
- - 2/2 - 0 0 2/2 0 2 0 2/2 2 0 1 2
- - 1/1 - 0 0 - - - - 1/1 0 0 1 1
1/1 1/1 0/1 0/1 0 0 1/1 0 1 0 1/1 0 0 0 1
1/1 1/1 1/1 - 0 0 1/1 0 1 0 1/1 0 0 0 1
1/1 1/1 1/1 1/1 0 0 - - - - 1/1 0 0 1 1
1/1 - 1/1 0/1 1 0 1/1 1 0 0 0/1 0 0 0 0
6/6 - 9/13 0/5 18 2 18/
13 5 0 17/23 14 0 0 5
23
2/2 3/3 2/2 0/1 0 3 7/7 4 3 0 1/7 0 1 0 0
2/2 1/1 - 1/1 0 0 - - - - 1/2 0 0 0 1
and DGCR2,
h mild phenylalanine hydroxylase deficit with compound heterozygosity for two
missense variants, i HTRA2 (2 patients), 45,X[3]/46,XX] mosaic Turner syndrome, j PRKN,
k PRKN,
l
TAF1 (mosaicism): “XDP-disease-specific change 3”.
-
=
unknown.
69