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