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