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