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