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