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