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