Page 79 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
Patient characteristics
Study design
Number of
subjects with
Age (y) Sex Specific genetic diagnosis
parkinsonism
case report 1 49 male Down syndrome
case report 1 20 female Down syndrome
case report 1 45 male Down syndrome
case report 1 21 male Down syndrome
case report 1 23 male Down syndrome
case series 4 35 male Dystonia 16
34 male Dystonia 16
48 female Dystonia 16
64 male Dystonia 16
case report 1 12 female Early infantile epileptic
encephalopathy 4/ STXBP1
hidden case 1 46 female Early infantile epileptic
encephalopathy 4/STXBP1
case report 1 13 female Early-onset Lafora disease
case report 1 61 male Fragile X syndrome
case report 1 22 female Hydroxysteroid dehydrogenase type
10 deficiency (HSD10)
case report 1 48 female Incontinentia Pigmenti
case report 1 27 male Klinefelter syndrome
case report 1 60 male Klinefelter syndrome
case report 1 male Klinefelter syndrome
case report 1 37 male Klinefelter syndrome
case report 1 54 male L2-hydroxyglutaric aciduria
hidden case 1 40 female Leigh syndrome/ mt-ATP6
case report 1 44 male Leigh syndrome/ mt-ATP6
case report 1 44 female Leigh syndrome/mt-FMT
case report 1 16 male Leigh-like syndrome
case report 1 44 male Mevalonic aciduria
case report 1 6 female Molybdenum cofactor deficiency type
B
case report 1 36 male Mucolipidosis type II
case report 1 54 female Myotonic dystrophy type 1
case report 1 65 female Neurofibromatosis type 1
hidden case 1 70 male Neurofibromatosis type 1
case report 1 54 female Neurofibromatosis type 1
case report 1 58 female Neurofibromatosis type 1
case report 1 33 male NHE6 - Christianson syndrome in
males/ SLC9A6
other 2 65 female NHE6 - Christianson syndrome in
males/ SLC9A6
55 female NHE6 - Christianson syndrome in
males/ SLC9A6
2
77