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