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