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