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