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