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