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