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