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