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