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