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