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