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