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