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