Kurian, 2009: Overview of all reported DYT/PARK-SLC6A3 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
I
|
PAK
|
0
|
4
|
Yes
|
Spasticity
Resting tremor Dystonia (any or unspecified) Bradykinesia Developmental delay/intellectual disability Motor delay Rigidity Parkinsonism Tremor (any or unspecified) Hyperreflexia Muscular hypotonia Dystonia, parkinsonism or dyskinesia Show more (+9) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
No
|
Tremor (any or unspecified)
Dystonic crisis Ocular flutter Muscular hypotonia Motor delay Dystonia, foot Slow saccades Developmental delay/intellectual disability Resting tremor Chorea Dystonia (any or unspecified) Hyperreflexia Dystonia, limb Saccade initiation failure Bradykinesia Parkinsonism Spasticity Dystonia, parkinsonism or dyskinesia Dystonia, arm Dyskinesia, orolingual Rigidity Show more (+18) |
Muscular hypotonia
Parkinsonism |
|
Yes
|
♂
|
I
|
PAK
|
0
|
6
|
Yes
|
Dyskinesia, orolingual
Rigidity Tremor (any or unspecified) Hyperreflexia Spasticity Dystonia (any or unspecified) Resting tremor Bradykinesia Dystonia, parkinsonism or dyskinesia Muscular hypotonia Parkinsonism Developmental delay/intellectual disability Dystonia, limb Motor delay Dystonia, arm Show more (+12) |
Muscular hypotonia
Parkinsonism |