Mascalchi, 2017: Overview of all reported DYT/PARK-PLA2G6 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
|
Cerebellar atrophy
Anarthria Microcephaly Tetraparesis Strabismus Mri brain other abnormalities Delayed speech and language development Abnormal central motor function Delayed fine motor development Delayed gross motor development Pyramidal sign Nystagmus Motor delay Hyperreflexia Global developmental delay Muscular hypotonia Show more (+13) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
No
|
Tetraparesis
Hyperreflexia Motor delay Delayed fine motor development Global developmental delay Mri brain other abnormalities Cerebellar atrophy Strabismus Microcephaly Pyramidal sign Delayed gross motor development Nystagmus Abnormal central motor function Muscular hypotonia Delayed speech and language development Anarthria Show more (+13) |
n.a.
|