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