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