| 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
Dysarthria Ataxia Parkinsonism Mental deterioration Dysphagia Bradykinesia Wheelchair Dystonia (any or unspecified) Nystagmus Chorea Cerebral atrophy Laryngeal stridor Spasticity Gait ataxia Walking aids Dystonia, limb Cerebellar atrophy Show more (+15) |
Behavioural abnormality
Dysarthria Bradykinesia |
|
Yes
|
♂
|
A
|
KOR
|
28
|
29
|
n.a.
|
Gait ataxia
Mental deterioration Ataxia, limb Cerebellar atrophy Walking aids Orofacial dyskinesia Ataxia Chorea Wheelchair Dysarthria Dysphagia Show more (+8) |
Gait ataxia
Chorea Dysarthria |