Kurian, 2011: Overview of all reported DYT/PARK-SLC6A3 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
TUR
|
0
|
15
|
No
|
Dystonic crisis
Saccade initiation failure Dystonia, generalized Dystonia, limb Dystonia, foot Slow saccades Chorea Ocular flutter Spasticity Bradykinesia Motor delay Parkinsonism Dystonia, parkinsonism or dyskinesia Hyperreflexia Resting tremor Dystonia, arm Anarthria Dystonia (any or unspecified) Dystonia, oromandibular Rigidity Tremor (any or unspecified) Show more (+18) |
Parkinsonism
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Dyskinesia, orolingual
Saccade initiation failure Dystonia (any or unspecified) Dystonia, oromandibular Anarthria Motor delay Parkinsonism Dystonia, parkinsonism or dyskinesia Slow saccades Dystonia, generalized Chorea Muscular hypotonia Ocular flutter Show more (+10) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Dystonia, oromandibular
Ocular flutter Dystonia, foot Muscular hypotonia Dystonia (any or unspecified) Dystonia, limb Dystonia, parkinsonism or dyskinesia Dystonic crisis Parkinsonism Dyskinesia, orolingual Bradykinesia Anarthria Motor delay Dystonia, generalized Dystonia, hand Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
6
|
No
|
Tremor (any or unspecified)
Bradykinesia Dystonia, parkinsonism or dyskinesia Spasticity Dyskinesia Parkinsonism Dystonia, generalized Dystonia, oromandibular Hyperreflexia Motor delay Dystonia (any or unspecified) Ocular flutter Anarthria Muscular hypotonia Resting tremor Dystonia, foot Dystonic crisis Show more (+14) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
16
|
No
|
Dystonia, oromandibular
Dystonia, parkinsonism or dyskinesia Resting tremor Dystonia (any or unspecified) Bradykinesia Dystonia, hand Dystonia, generalized Parkinsonism Hyperreflexia Ocular flutter Saccade initiation failure Tremor (any or unspecified) Motor delay Muscular hypotonia Slow saccades Chorea Anarthria Dyskinesia, orolingual Dystonia, arm Dystonia, foot Dystonic crisis Spasticity Dystonia, limb Show more (+20) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
4
|
No
|
Anarthria
Dystonia (any or unspecified) Dyskinesia Dystonia, parkinsonism or dyskinesia Dystonic crisis Dystonia, generalized Dystonia, oromandibular Motor delay Parkinsonism Bradykinesia Dystonia, foot Show more (+8) |
n.a.
|