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, generalized
Motor delay
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Rigidity
Dystonia, limb
Muscular hypotonia
Dyskinesia
Dystonia, axial
Dystonic tremor
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n.a.
Yes
♀
C
n.a.
0
35
Yes
Tremor (any or unspecified)
Bradykinesia
Rigidity
Motor delay
Dystonia (any or unspecified)
Parkinsonism
Dystonia, generalized
Developmental regression
Dystonic tremor
Dystonia, parkinsonism or dyskinesia
Resting tremor
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n.a.