Ng, 2014: 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
I
PAK
11
26
Yes
Dystonia, parkinsonism or dyskinesia
Dystonia (any or unspecified)
Dystonia, cervical
Tremor, head
Dystonia, craniofacial
Dystonia, focal
Tremor (any or unspecified)
Developmental regression
Show more (+5)
Dystonia, cervical
Tremor (any or unspecified)
Yes
O
n.a.
0
3
No
Dystonic tremor
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Muscular hypotonia
Bradykinesia
Parkinsonism
Dyskinesia
Developmental regression
Dystonia, generalized
Motor delay
Rigidity
Show more (+8)
n.a.
Yes
C
ITA
0
7
No
Dystonia (any or unspecified)
Dystonic tremor
Bradykinesia
Parkinsonism
Rigidity
Chorea
Dystonia, parkinsonism or dyskinesia
Motor delay
Dyskinesia, orolingual
Dyskinesia
Developmental regression
Muscular hypotonia
Dystonia, generalized
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Parkinsonism
No
I
PAK
11
16
Yes
Tremor, limb
Tremor (any or unspecified)
Developmental regression
Dystonia, parkinsonism or dyskinesia
Tremor, head
Show more (+2)
Tremor (any or unspecified)
Yes
I
PAK
11
28
Yes
Postural instability
Resting tremor
Parkinsonism
Developmental regression
Dystonia, parkinsonism or dyskinesia
Tremor (any or unspecified)
Bradykinesia
Ocular flutter
Show more (+5)
Tremor (any or unspecified)
Yes
C
n.a.
0
4
No
Bradykinesia
Muscular hypotonia
Parkinsonism
Motor delay
Dystonia, generalized
Dyskinesia
Developmental regression
Dystonia, parkinsonism or dyskinesia
Rigidity
Dystonia (any or unspecified)
Dystonic tremor
Show more (+8)
n.a.