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