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