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