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