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