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