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