Puffenberger, 2012: Overview of all reported DYT/PARK-SLC6A3 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
n.a.
0
10
Yes
Developmental regression
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Motor delay
Muscular hypotonia
Dystonia, axial
Rigidity
Dystonic tremor
Dyskinesia
Dystonia, limb
Dystonia, generalized
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n.a.
Yes
C
n.a.
0
35
Yes
Developmental regression
Motor delay
Dystonia, parkinsonism or dyskinesia
Dystonia (any or unspecified)
Resting tremor
Tremor (any or unspecified)
Bradykinesia
Rigidity
Dystonic tremor
Parkinsonism
Dystonia, generalized
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n.a.