Page 85 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
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Parkinsonism in GNDs
Patient characteristics
Study design
Number of
subjects with
parkinsonism
Age (y) Sex Specific genetic diagnosis
case series 3 5 male Tyrosine hydroxylase deficiency
2
9 male Tyrosine hydroxylase deficiency
male Tyrosine hydroxylase deficiency
34 case report 1 9 male WARS2
case report 1 11 male WARS2
case report 1 61 male X-linked adrenoleukodystrophy
case report 1 61 male X-linked adrenoleukodystrophy
case series 2 20 male X-linked parkinsonism with spasticity
/ATP6AP2
31 male X-linked parkinsonism with spasticity/
ATP6AP2
case report 1 50 male 22q11.2 deletion
case series 3 49 female ATP7A
54 female ATP7A
50 female ATP7A
case report 1 10 female Beta-propeller protein-associated
neurodegeneration
case report 1 46 female Beta-propeller protein-associated
neurodegeneration
case report 1 13 female Beta-propeller protein-associated
neurodegeneration
case series 1 58 female Cerebrotendinous xanthomatosis
case report 1 40 male Christianson syndrome
case report 1 72 male DOORS syndrome
case report 1 30 male Dopa-responsive dystonia
parkinsonism
1 74 male case report unknown Dopa-responsive dystonia
parkinsonism
case report male 1 77 Dopa-responsive dystonia
parkinsonism
case series 2 20 male Dravet syndrome
42 female Dravet syndrome
case report 1 49 female L2-hydroxyglutaric aciduria
case report 1 45 male PNPLA6
case series 3 61 PPP2R5D
34 male PPP2R5D
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