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