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