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