Page 83 - 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
Sex 49 male RAB39B
case series 1 48 male RAB39B
case report 1 39 male RAB39B
case series 2 44 male RAB39B
45 male RAB39B
case report 1 49 female Rett syndrome
Age (y) male 2
Rett syndrome/ MECP2
Specific genetic diagnosis
case report 1 16 case report 1 15 female Rett syndrome/ MECP2
case report 1 17 male Rett syndrome/ MECP2
case series 1 46 male Seipinopathy
case series 2 70 female Spastic paraplegia type 10
41 female Spastic paraplegia type 10
case series 2 28 female Spastic paraplegia type 11
15 male Spastic paraplegia type 11
case report 1 32 female Spastic paraplegia type 11
case series 1 16 female Spastic paraplegia type 11
case report 1 39 male Spastic paraplegia type 15
case report 1 17 female Spastic paraplegia type 15
case series 2 31 male Spastic paraplegia type 15
20 male Spastic paraplegia type 15
case report 1 70 male Spinocerebellar ataxia 27
hidden case 1 4 male Tay Sachs disease
case report 1 45 female Turner syndrome
case report 1 57 female Turner syndrome, atypical
case series 4 0 (4m) male Tyrosine hydroxylase deficiency
0 (5m) unknown Tyrosine hydroxylase deficiency
0 (3m) unknown Tyrosine hydroxylase deficiency
0 (3m) unknown Tyrosine hydroxylase deficiency
case series 3 2 unknown Tyrosine hydroxylase deficiency
0 (5m) unknown Tyrosine hydroxylase deficiency
0 (5m) unknown Tyrosine hydroxylase deficiency
case report 1 2 female Tyrosine hydroxylase deficiency
case report 1 27 male Tyrosine hydroxylase deficiency
female Tyrosine hydroxylase deficiency
case report 1 3 81
