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