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