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
|
Parkinsonism
Spasticity Hyperreflexia Chorea Dystonia, foot Slow saccades Dystonia, limb Dystonia (any or unspecified) Dystonia, oromandibular Tremor (any or unspecified) Bradykinesia Dystonia, generalized Dystonia, arm Motor delay Saccade initiation failure Dystonic crisis Resting tremor Anarthria Dystonia, parkinsonism or dyskinesia Ocular flutter Rigidity Show more (+18) |
Parkinsonism
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Saccade initiation failure
Chorea Dystonia, parkinsonism or dyskinesia Anarthria Dystonia, generalized Dystonia, oromandibular Slow saccades Dystonia (any or unspecified) Dyskinesia, orolingual Muscular hypotonia Motor delay Parkinsonism Ocular flutter Show more (+10) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
2
|
No
|
Anarthria
Dyskinesia, orolingual Parkinsonism Bradykinesia Muscular hypotonia Dystonia, oromandibular Motor delay Dystonia (any or unspecified) Dystonia, limb Ocular flutter Dystonia, parkinsonism or dyskinesia Dystonia, hand Dystonic crisis Dystonia, generalized Dystonia, foot Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
6
|
No
|
Dystonia, generalized
Anarthria Motor delay Hyperreflexia Resting tremor Dyskinesia Dystonia (any or unspecified) Spasticity Muscular hypotonia Parkinsonism Ocular flutter Dystonia, foot Tremor (any or unspecified) Dystonia, parkinsonism or dyskinesia Dystonia, oromandibular Bradykinesia Dystonic crisis Show more (+14) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
16
|
No
|
Chorea
Saccade initiation failure Dystonia, foot Dystonia, generalized Dystonia, parkinsonism or dyskinesia Dystonia, hand Slow saccades Spasticity Tremor (any or unspecified) Parkinsonism Muscular hypotonia Anarthria Dystonia, arm Dystonia, oromandibular Hyperreflexia Motor delay Ocular flutter Dystonia (any or unspecified) Dyskinesia, orolingual Resting tremor Bradykinesia Dystonic crisis Dystonia, limb Show more (+20) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
4
|
No
|
Dystonia, generalized
Dystonia, oromandibular Motor delay Bradykinesia Parkinsonism Dystonia, parkinsonism or dyskinesia Dyskinesia Dystonia (any or unspecified) Dystonic crisis Anarthria Dystonia, foot Show more (+8) |
n.a.
|