Page 70 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
Figure S2. continued
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 *
56 35/
49
30/
38
39 46/47 46/46 44/47 21/38 32/40
2 1/2 2/2 19 2/2 2/2 2/2 - -
Mevalonic aciduria 1 1/1 0/1 32 1/1 1/1 0/1 - 1/1
Molybdenum cofactor
1 0/1 0/1 23 1/1 1/1 0/1 - 1/1
deficiency type B (MOCS2)
Mucolipidosis type II
1 1/1 1/1 16 1/1 1/1 1/1 - 1/1
(GNPTAB)
Myotonic dystrophy type 1
1 0/1 0/1 53 1/1 1/1 0/1 1/1 0/1
(DMPK)
NUS1 PNPLA6 Rapid onset dystonia-
1 1/1 - - 1/1 0/1 1/1 1/1 -
1 1/1 0/1 45 1/1 - 1/1 - -
1 0/1 1/1 10 1/1 1/1 0/1 - 1/1
parkinsonism (ATP1A3)
SCA27 (FGF14) 1 1/1 0/1 20 1/1 1/1 1/1 1/1 1/1
Seipinopathy (BSCL2) 1 1/1 0/1 - 1/1 1/1 1/1 0/1 1/1
Smith-Magenis Syndrome
(1) 1/1 - 33 1/1 1/1 0/1 - -
(RAI1) e
Tay Sachs disease (HEXA) 1 1/1 0/1 2 1/1 0/1 1/1 1/1 -
Copy number variant
22q11.2 deletion syndrome j Angelman syndrome/
15q11-13 deletion or
uniparental disomy
16p11.2 deletion syndrome 1 1/1 1/1 17 1/1 1/1 0/1 1/1 1/1
16p11.2 duplication
1 1/1 1/1 35 1/1 1/1 1/1 - 0/1
syndrome
6p25 deletion 1 0/1 1/1 20 1/1 1/1 0/1 1/1 1/1
Partial 4q trisomy 1 0/1 1/1 30 1/1 1/1 1/1 - 1/1
1 1/1 1/1 35 1/1 1/1 1/1 1/1 1/1
Partial 6q trisomy j Aneuploid
Down syndrome 23 14/
6/6 32 20/22 21/23 10/23 1/2 5/5
18
Klinefelter syndrome k 7 7/7 0/2 23 6/6 7/7 6/7 1/2 3/4
Turner syndrome l 2 0/2 0/1 50 1/1 1/1 0/1 - -
*
The numerator represents how many patients were reported to present with a specific feature,
and the denominator represents the number of patients with data available.
Additional genetic mutations with potential relevance to parkinsonism were reported: a LRRK2,
b
PRKN,
c ADORA (2 patients), d FMR1 premutation, e One case was known to have a pathogenic
variant in both SLC9A6 and RAI1,
f CHRNA6,
g atypical 22q11.2 deletion of 108kb involving PRODH
68