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