Paisán-Ruiz, 2012: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Cerebellar signs
Cognitive impairment Rigidity Dysarthria Psychiatric disorders Bradykinesia Neuromuscular abnormality Bulbar dysfunction Abnormal central motor function Anarthria Spasticity Cerebellar atrophy Autonomic sign/sympt. NMS parkinsonism Pyramidal sign Gait disturbance Parkinsonism Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GRC
|
24
|
32
|
No
|
Pyramidal sign
Dystonic posturing Dystonia, generalized Anarthria Dyskinesia Dystonia, leg Mri brain other abnormalities Dystonia, limb Hypomimic face Cognitive impairment Tremor (any or unspecified) Dystonia, arm Decreased body weight Cerebellar atrophy Dystonia (any or unspecified) Psychiatric disorders Hypointensity on basal ganglia and or nigra Abnormal central motor function Psychosis Rigidity Hyperreflexia NMS parkinsonism Parkinsonism Bradykinesia Show more (+21) |
n.a.
|