Romani, 2015: 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.
|
TUN
|
n.a.
|
8
|
No
|
Hypointensity on basal ganglia and or nigra
Cognitive impairment Cerebellar atrophy Abnormal central motor function Spasticity Cerebellar signs Pyramidal sign Gait disturbance Mri brain other abnormalities Show more (+6) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
TUN
|
n.a.
|
4
|
No
|
Cerebellar atrophy
Neuromuscular abnormality Dystonia (any or unspecified) Nystagmus Abnormal central motor function Spasticity Cognitive impairment Pyramidal sign Optic atrophy Muscular hypotonia Mri brain other abnormalities Show more (+8) |
n.a.
|