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