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