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