Cif, 2014: 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
|
♀
|
JO
|
n.a.
|
5
|
15
|
n.a.
|
Myoclonus
Mri brain other abnormalities Postural tremor Tremor, intention Spasticity Hypointensity on basal ganglia and or nigra Pyramidal sign Cerebellar atrophy Dystonia (any or unspecified) Developmental regression Dystonia, axial Dystonia, generalized Abnormal central motor function Seizures Cognitive impairment Tremor (any or unspecified) Show more (+13) |
n.a.
|