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