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