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