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