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