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