Guo, 2017: 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.
|
n.a.
|
7
|
7
|
n.a.
|
Bulbar dysfunction
Dysphonia Global developmental delay Spasticity Cerebellar signs Hyperreflexia Cognitive impairment Delayed gross motor development Cerebellar atrophy Mri brain other abnormalities Pyramidal sign Dysarthria Delayed speech and language development Motor delay Hypotonia Hypointensity on basal ganglia and or nigra Muscular hypotonia Gait disturbance Abnormal central motor function Show more (+16) |
n.a.
|