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