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