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