Page 68 - 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 *
Dopa-responsive dystonia
4 2/4 0/4 40 3/3 2/2 2/2 1/1 1/2
(GCH1)
Dystonia 16 (PRKRA) 4 3/4 0/4 11 3/3 1/1 1/1 - 3/3
Glutaric aciduria type 1 4 3/4 - <
4/4 4/4 - - -
21
Phenylketonuria (PAH) 4 1/4 3/4 34 4/4 3/4 3/3 1/1 1/1
PPP2R5D 4 2/4 4/4 27 3/3 3/3 3/4 2/2 3/3
Leigh syndrome (MT-ATP6
3 1/3 1/3 31 2/2 2/2 2/3 0/1 0/1
and MT-MFT)
Menkes disease (ATP7A) 3 0/3 1/1 50 - - 1/1 - 3/3
Dopa-responsive dystonia,
2 2/2 1/2 15 1/1 1/1 1/2 - 1/1
Sepiapterin reductase
deficiency (SR)
Early infantile epileptic
2 0/2 2/2 9 2/2 2/2 2/2 1/1 2/2
encephalopathy 4 (STXBP1)
L2-hydroxyglutaric aciduria
2 1/2 0/1 38 2/2 2/2 1/2 2/2 1/2
(L2HGDH)
SPG10 (KIF5A) 2 0/2 0/2 55 2/2 1/1 1/2 - 2/2
WARS2 f 2 2/2 0/1 1 1/1 0/1 2/2 1/1 1/1
X-linked
2 2/2 0/2 58 1/1 1/1 0/1 - 1/1
adrenoleukodystrophy
(ABCD1)
5,10-methylenetetrahydrofo-
1 0/1 - 2 1/1 1/1 1/1 - -
late reductase deficiency
Argininosuccinate Lyase
1 0/1 1/1 61 1/1 1/1 1/1 1/1 0/1
Deficiency g
CLTC h 1 0/1 1/1 4 1/1 1/1 0/1 - -
Cornelia de Lange
1 1/1 1/1 30 1/1 1/1 0/1 1/1 0/1
syndrome
Cowden syndrome (PTEN) 1 0/1 0/1 66 - - - - -
MT-CYB 1 1/1 0/1 15 1/1 1/1 1/1 1/1 1/1
DOORS syndrome
1 1/1 1/1 63 - 1/1 1/1 - 1/1
(ATP6V1B2)
Dopamine transporter
1 - - 0.5 1/1 1/1 0/1 0/1 -
deficiency syndrome
(SLC6A3)
Early-onset Lafora disease
1 0/1 0/1 14 1/1 1/1 1/1 - -
(EPM2A)
HSD10 (HSD17B10) 1 0/1 1/1 17 1/1 1/1 0/1 - 1/1
Incontinentia Pigmenti
1 0/1 0/1 48 1/1 - - - 1/1
(IKBKG)
Leigh-like syndrome (MT-TI) 1 1/1 - 16 1/1 1/1 0/1 - -
66