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