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