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