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