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.
|
Dystonia (any or unspecified)
Bradykinesia Tremor (any or unspecified) Dyskinesia Rigidity Gait disturbance Parkinsonism Abnormal central motor function Tremor, limb Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
PAK
|
18
|
21
|
n.a.
|
Autonomic sign/sympt.
Postural instability Bradykinesia Gait disturbance Cognitive impairment Psychiatric disorders Dystonia, foot Dystonia, axial Hyperreflexia Myoclonus Spasticity Mri brain other abnormalities Datscan/trodat with evidence of dopaminergic deficit Pyramidal sign Rigidity NMS parkinsonism Abnormal central motor function Dystonia (any or unspecified) Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
IND
|
26
|
34
|
No
|
Dysarthria
Dystonia, arm Postural tremor Mri brain other abnormalities Postural instability Dystonia (any or unspecified) Depression Bradykinesia NMS parkinsonism Dystonia, leg Tremor (any or unspecified) Resting tremor Dyskinesia Abnormal eye movement Abnormal central motor function Hyperreflexia Rigidity Dystonia, limb Postural tremor, upper limb Hand tremor Parkinsonism Hypomimic face Datscan/trodat with evidence of dopaminergic deficit Tremor, limb Cognitive impairment Pyramidal sign Show more (+23) |
n.a.
|