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