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