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, focal
Dystonia, parkinsonism or dyskinesia
Tremor, head
Tremor (any or unspecified)
Developmental regression
Dystonia, craniofacial
Dystonia, cervical
Dystonia (any or unspecified)
Show more (+5)
Tremor (any or unspecified)
Dystonia, cervical
Yes
O
n.a.
0
3
No
Muscular hypotonia
Bradykinesia
Parkinsonism
Dystonic tremor
Motor delay
Dystonia, generalized
Rigidity
Dyskinesia
Developmental regression
Dystonia (any or unspecified)
Dystonia, parkinsonism or dyskinesia
Show more (+8)
n.a.
Yes
C
ITA
0
7
No
Bradykinesia
Dyskinesia, orolingual
Dystonia (any or unspecified)
Developmental regression
Motor delay
Dystonia, generalized
Dystonia, parkinsonism or dyskinesia
Dyskinesia
Dystonic tremor
Rigidity
Chorea
Parkinsonism
Muscular hypotonia
Show more (+10)
Parkinsonism
No
I
PAK
11
16
Yes
Tremor, head
Tremor (any or unspecified)
Tremor, limb
Developmental regression
Dystonia, parkinsonism or dyskinesia
Show more (+2)
Tremor (any or unspecified)
Yes
I
PAK
11
28
Yes
Tremor (any or unspecified)
Bradykinesia
Ocular flutter
Dystonia, parkinsonism or dyskinesia
Parkinsonism
Developmental regression
Postural instability
Resting tremor
Show more (+5)
Tremor (any or unspecified)
Yes
C
n.a.
0
4
No
Dystonia (any or unspecified)
Muscular hypotonia
Parkinsonism
Dystonia, parkinsonism or dyskinesia
Developmental regression
Dyskinesia
Motor delay
Dystonia, generalized
Bradykinesia
Dystonic tremor
Rigidity
Show more (+8)
n.a.