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