| 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.
|
Abnormal central motor function
Cerebellar atrophy Motor delay Hyperreflexia Spasticity Global developmental delay Muscular hypotonia Delayed speech and language development Gait disturbance Pyramidal sign Dysphonia Dysarthria Cognitive impairment Bulbar dysfunction Hypotonia Mri brain other abnormalities Cerebellar signs Delayed gross motor development Hypointensity on basal ganglia and or nigra Show more (+16) |
n.a.
|