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