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