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