| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
14
|
18
|
n.a.
|
Cerebellar atrophy
Abnormal central motor function Hypointensity on basal ganglia and or nigra Developmental delay/intellectual disability Cognitive impairment NMS parkinsonism Anxiety Tremor (any or unspecified) Psychiatric disorders Depression Gait disturbance Show more (+8) |
Gait disturbance
|