Table 1.

Overview Over Dystonia –Plus Syndromes

Disease	Gene	Functional Defect	Phenotype
DRD/ DYT5a	GCH PTPS PCD DHPR	BH4 deficiency, Reduced dopamine biosynthesis, oxidative stress	Dopa-responsive dystonia
DRD/ DYT5b	TH	Reduced dopamine biosynthesis	Dopa-responsive dystonia, Cognitive deficits
DYT11	SGCE	Unknown, synaptic transmission/adhesion?	Myoclonus-Dystonia
RDP/DYT12	ATP1A3	Dysregulated neuronal ion homeostasis	Rapid-onset dystonia parkinsonism
DYT16	PACT	Unknown	Early-onset dystonia parkinsonism

Table 1 Abbreviations: DRD Dopa-responsive dystonia, GCH GTP- cyclohydrolase 1, PTPS 6-pyruvoyltetrahydropterin synthase, PCD pterin-4α-carbinolamine dehydratase, DHPR dihydropteridine reductase, TH tyrosine hydroxylase, SGCE epsilon-sarcoglycan, RDP Rapid-onset dystonia parkinsonism, ATP1A3 alpha3- Na+-K+-ATPase, PRKRA Protein kinase interferon-inducible double stranded RNA dependent activator.