Page 66 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
Figure S2. Patient characteristics and parkinsonian features per genetic disorder
0-24%
24-49%
50-74%
75-100%
Genetic condition
Number of cases
Male *
Intellectual disability *
Mean age at motor onset
Bradykinesia,
hypokinesia or akinesia *
Rigidity *
Rest tremor *
Postural instability *
Asymmetric motor
symptoms *
Monogenic
Beta-propeller
protein-associated
neurodegeneration (WDR45)
Cerebrotendinous
xanthomatosis (CYP27A)
Rett syndrome (MECP2) POLG SYNJ1 DNAJC6 a Tyrosine hydroxylase
deficiency (TH)
Dravet syndrome (SCN1A) Neurofibromatosis type I,
Von Recklinghausen (NF1) b
Phosphoglycerate kinase
deficiency (PGK1)
SPG11 Neuronal ceroid
lipofuscinosis, juvenile
(CLN3)
PTRHD1 c RAB39B 43 6/
43
41/
25 40/41 43/43 8/
12/17 6/6
41
34
22 8/
22
21 6/
21
20 10/20 1/
14/16 34 20/20 18/20 12/18 10/11 12/13
6/8 12 21/21 16/16 6/
1/2 1/3
21
51 19/19 13/15 13/15 2/2 11/13
20 10/20 0/
20
18
8/
19
26 20/20 17/19 16/20 13/13 19/19
19 8/
16
16 5/
10
13 5/
12
11 5/
11
10 10/10 8/
16 19/19 19/19 15/19 19/19 9/11
5/9 4 11/11 12/13 10/14 1/1 0/1
13/13 27 13/13 12/12 2/
6/
13
13
9/
11
1/2 56 2/2 2/2 2/3 1/2 2/2
10 1/4 5/
10
10
22 10/10 9/
9/
6/7 8/8
10
10
15 4/4 3/4 4/4 3/3 2/4
8 8/8 0/8 <
8/8 8/8 0/8 8/8 0/8
19
7 4/7 6/7 24 6/6 3/7 4/6 6/6 5/5
7 7/7 7/7 38 7/7 5/5 6/6 1/1 3/3
X-linked parkinsonism with
7 7/7 2/7 18 7/7 1/2 4/7 2/2 1/1
spasticity (ATP6AP2)
Alexander disease (GFAP) 5 2/5 1/5 55 5/5 5/5 1/2 0/1 2/2
Dopa-responsive dystonia-
5 3/4 3/5 41 5/5 5/5 4/5 2/2 5/5
Parkinsonism (NR4A2)
Fragile X syndrome (FMR1)
5 5/5 1/1 58 5/5 1/1 0/1 1/1 -
d
SPG15 (ZFYVE26) 5 4/5 3/4 11 5/5 4/5 2/5 - 5/5
Christianson syndrome –
4 2/4 0/3 44 4/4 3/3 1/2 3/4 3/3
NHE6 (SLC9A6) e
Dihydropteridine reductase
4 3/3 2/2 13 2/2 3/3 3/4 - -
deficiency (QDPR)
DNAJC12 4 2/4 4/4 27 2/2 1/1 1/4 - -
64