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
|
Motor delay
Muscular hypotonia Rigidity Parkinsonism Developmental delay/intellectual disability Spasticity Hyperreflexia Dystonia (any or unspecified) Bradykinesia Resting tremor Tremor (any or unspecified) Dystonia, parkinsonism or dyskinesia Show more (+9) |
Muscular hypotonia
Parkinsonism |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
No
|
Slow saccades
Chorea Dystonia, arm Rigidity Spasticity Motor delay Muscular hypotonia Saccade initiation failure Parkinsonism Dystonia, foot Resting tremor Dystonia, limb Ocular flutter Hyperreflexia Bradykinesia Dystonia (any or unspecified) Developmental delay/intellectual disability Dystonic crisis Dyskinesia, orolingual Dystonia, parkinsonism or dyskinesia Tremor (any or unspecified) Show more (+18) |
Muscular hypotonia
Parkinsonism |
|
Yes
|
♂
|
I
|
PAK
|
0
|
6
|
Yes
|
Dystonia (any or unspecified)
Motor delay Developmental delay/intellectual disability Dystonia, parkinsonism or dyskinesia Hyperreflexia Parkinsonism Spasticity Resting tremor Tremor (any or unspecified) Dystonia, limb Bradykinesia Muscular hypotonia Dystonia, arm Dyskinesia, orolingual Rigidity Show more (+12) |
Parkinsonism
Muscular hypotonia |