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