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