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