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