| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
KOR
|
14
|
20
|
n.a.
|
Gait ataxia
Wheelchair Cerebral atrophy Cerebellar atrophy Chorea Dystonia (any or unspecified) Nystagmus Dysphagia Laryngeal stridor Parkinsonism Walking aids Behavioural abnormality Dystonia, limb Dysarthria Spasticity Ataxia Bradykinesia Mental deterioration Show more (+15) |
Behavioural abnormality
Dysarthria Bradykinesia |
|
Yes
|
♂
|
A
|
KOR
|
28
|
29
|
n.a.
|
Wheelchair
Ataxia Walking aids Orofacial dyskinesia Cerebellar atrophy Ataxia, limb Mental deterioration Dysphagia Dysarthria Gait ataxia Chorea Show more (+8) |
Dysarthria
Gait ataxia Chorea |