Mascalchi, 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 |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
3
|
No
|
Muscular hypotonia
Abnormal central motor function Motor delay Microcephaly Pyramidal sign Nystagmus Global developmental delay Strabismus Tetraparesis Delayed fine motor development Cerebellar atrophy Hyperreflexia Anarthria Delayed gross motor development Mri brain other abnormalities Delayed speech and language development Show more (+13) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
No
|
Mri brain other abnormalities
Cerebellar atrophy Strabismus Hyperreflexia Microcephaly Pyramidal sign Nystagmus Muscular hypotonia Motor delay Delayed fine motor development Abnormal central motor function Delayed speech and language development Tetraparesis Anarthria Delayed gross motor development Global developmental delay Show more (+13) |
n.a.
|