Paisán-Ruiz, 2012: 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 |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Psychiatric disorders
Gait disturbance Cognitive impairment Pyramidal sign Rigidity Spasticity Cerebellar atrophy Abnormal central motor function Cerebellar signs Dysarthria Bradykinesia Bulbar dysfunction Neuromuscular abnormality Parkinsonism Autonomic sign/sympt. NMS parkinsonism Anarthria Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GRC
|
24
|
32
|
No
|
Psychosis
Dyskinesia Dystonia, leg Parkinsonism Bradykinesia Anarthria Pyramidal sign Tremor (any or unspecified) Dystonic posturing Cerebellar atrophy Decreased body weight Dystonia (any or unspecified) Dystonia, arm Dystonia, generalized Rigidity Mri brain other abnormalities Dystonia, limb Cognitive impairment Psychiatric disorders Abnormal central motor function Hyperreflexia Hypointensity on basal ganglia and or nigra Hypomimic face NMS parkinsonism Show more (+21) |
n.a.
|