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