| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
49
|
Yes
|
Chorea
Dysarthria Dystonia (any or unspecified) Gait impairment Dystonia Cerebellar signs Hypothyroidism -Motor Ataxia Delayed gross motor development Motor delay Show more (+8) |
Ataxia
|
|
No
|
♀
|
n.a.
|
GBR
|
n.a.
|
26
|
Yes
|
-Motor
Motor delay Chorea Ataxia Cerebellar signs Hypothyroidism Delayed gross motor development Gait impairment Show more (+5) |
Chorea
Ataxia |