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