Ozes, 2017: 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.
|
ROU
|
7
|
7
|
No
|
Dystonia (any or unspecified)
Mri brain other abnormalities Pyramidal sign Cerebellar atrophy Gait disturbance Dystonia, foot Dystonia, focal Cerebellar signs Cognitive impairment Abnormal central motor function Dysarthria Dystonia, limb Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
MAR
|
4
|
4
|
No
|
Cerebellar signs
Cognitive impairment Hyperreflexia Bradykinesia Spasticity Mri brain other abnormalities Parkinsonism Cerebellar atrophy Abnormal central motor function Dysarthria Pyramidal sign Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
TUR
|
9
|
9
|
n.a.
|
Tremor (any or unspecified)
Abnormal central motor function Hypointensity on basal ganglia and or nigra Pyramidal sign Cerebellar signs Dysarthria Spasticity Tremor, intention Gait disturbance Hyperreflexia Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
TUR
|
21
|
21
|
n.a.
|
Dysarthria
Spasticity Hyperreflexia Rigidity Cerebellar signs Pyramidal sign Gait disturbance Hypointensity on basal ganglia and or nigra Abnormal central motor function Show more (+6) |
n.a.
|