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