Paisan-Ruiz, 2009: Overview of all reported DYT/PARK-PLA2G6-(NBIA) patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
IND
|
10
|
n.a.
|
n.a.
|
Dyskinesia
Rigidity Parkinsonism Tremor, limb Tremor (any or unspecified) Dystonia (any or unspecified) Gait disturbance Bradykinesia Abnormal central motor function Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
PAK
|
18
|
21
|
n.a.
|
Dystonia, axial
Mri brain other abnormalities Dystonia, foot NMS parkinsonism Myoclonus Datscan/trodat with evidence of dopaminergic deficit Postural instability Rigidity Abnormal central motor function Psychiatric disorders Cognitive impairment Bradykinesia Spasticity Pyramidal sign Gait disturbance Autonomic sign/sympt. Dystonia (any or unspecified) Hyperreflexia Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
26
|
34
|
No
|
Tremor (any or unspecified)
Bradykinesia Rigidity Dystonia (any or unspecified) Resting tremor Abnormal central motor function Postural instability Depression NMS parkinsonism Pyramidal sign Parkinsonism Dystonia, arm Dyskinesia Mri brain other abnormalities Hyperreflexia Dystonia, leg Postural tremor Dystonia, limb Cognitive impairment Abnormal eye movement Dysarthria Tremor, limb Postural tremor, upper limb Datscan/trodat with evidence of dopaminergic deficit Hypomimic face Hand tremor Show more (+23) |
n.a.
|