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