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