Page 75 - 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
parkinsonism
Age (y) Sex Specific genetic diagnosis
case report 1 27 female Beta-propeller protein-associated
neurodegeneration
2
case report female Beta-propeller protein-associated
neurodegeneration
1 38 case report 1 36 female Beta-propeller protein-associated
neurodegeneration
case report 1 31 female Beta-propeller protein-associated
neurodegeneration
case series 2 52 female Beta-propeller protein-associated
neurodegeneration
42 female Beta-propeller protein-associated
neurodegeneration
case report 1 34 male Beta-propeller protein-associated
neurodegeneration
case report 1 34 female Beta-propeller protein-associated
neurodegeneration
case report 1 40 female Beta-propeller protein-associated
neurodegeneration
case report 1 52 male Cerebrotendinous Xanthomatosis
case report 1 44 male Cerebrotendinous Xanthomatosis
case report 1 51 female Cerebrotendinous Xanthomatosis
case report 1 34 female Cerebrotendinous Xanthomatosis
case report 1 40 male Cerebrotendinous Xanthomatosis
case report 1 67 female Cerebrotendinous Xanthomatosis
case report 1 52 male Cerebrotendinous Xanthomatosis
case report 1 44 male Cerebrotendinous Xanthomatosis
case report 2 54 female Cerebrotendinous Xanthomatosis
49 male Cerebrotendinous Xanthomatosis
case series 3 46 female Cerebrotendinous Xanthomatosis
43 female Cerebrotendinous Xanthomatosis
33 female Cerebrotendinous Xanthomatosis
case series 1 58 female Cerebrotendinous Xanthomatosis
case series 2 40 female Cerebrotendinous Xanthomatosis
40 female Cerebrotendinous Xanthomatosis
case report 2 49 male Cerebrotendinous Xanthomatosis
63 male Cerebrotendinous Xanthomatosis
case report 1 30 female CLTC
case report 1 30 male Cornelia de Lange syndrome
case report 1 71 female Cowden syndrome
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