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