Page 73 - 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
2
case report 1 17 male 16p11.2 deletion
case report 1 69 male 16p11.2 duplication
case report 1 45 male 22q11.2 deletion
case report 1 52 male 22q11.2 deletion
case series 2 54 male 22q11.2 deletion
38 male 22q11.2 deletion
case report 1 35 female 22q11.2 deletion
case report 1 49 male 22q11.2 deletion
case report 1 30 male 22q11.2 deletion
case report 1 39 male 22q11.2 deletion
case report 1 36 male 22q11.2 deletion
case report 1 43 male 22q11.2 deletion
case report 1 34 female 22q11.2 deletion
case report 1 37 male 22q11.2 deletion
hidden case 2 45 male 22q11.2 deletion
48 female 22q11.2 deletion
case series 2 46 male 22q11.2 deletion
56 male 22q11.2 deletion
female 22q11.2 deletion
case report 1 55 case report 1 2 female 5,10-methylenetetrahydrofolate
reductase deficiency
case series 1 24 female 6p25 deletion
case report 1 58 female Alexander disease
case report 1 39 female Alexander disease
case report 1 55 male Alexander disease
case series 2 73 female Alexander disease
67 male Alexander disease
case series 2 23 male Angelman syndrome
43 female Angelman syndrome
case report 1 61 female Argininosuccinate Lyase Deficiency
case report 1 34 male Beta-propeller protein-associated
neurodegeneration
case report 1 11 female Beta-propeller protein-associated
neurodegeneration
case report 1 35 female Beta-propeller protein-associated
neurodegeneration
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