| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
7
|
n.a.
|
Delayed speech and language development
Pyramidal sign Global developmental delay Hyperreflexia Gait disturbance Motor delay Cerebellar signs Hypotonia Cerebellar atrophy Spasticity Bulbar dysfunction Dysarthria Delayed gross motor development Muscular hypotonia Dysphonia Mri brain other abnormalities Hypointensity on basal ganglia and or nigra Cognitive impairment Abnormal central motor function Show more (+16) |
n.a.
|