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