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