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