Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
ITA
|
n.a.
|
33
|
Yes
|
Chorea
|
||
No
|
♂
|
C
|
ITA
|
n.a.
|
3
|
Yes
|
-Motor
Ataxia |
Ataxia
|
|
Yes
|
♂
|
n.a.
|
GBR
|
0
|
16
|
Yes
|
Chorea
|
||
No
|
♂
|
C
|
ITA
|
n.a.
|
27
|
Yes
|
Gait impairment
Chorea -Motor |
Chorea
|
|
No
|
♂
|
C
|
ITA
|
n.a.
|
5
|
Yes
|
-Motor
Ataxia Chorea |
Chorea
|
|
No
|
♀
|
C
|
ITA
|
n.a.
|
4
|
Yes
|
Delayed fine motor development
Global developmental delay Profound global developmental delay Tremor, action -Motor Gait impairment Chorea Developmental delay Hyperreflexia Falls Tremor (any or unspecified) Dysarthria Delayed gross motor development Spasticity Tremor, intention Cerebellar signs Motor delay Severe global developmental delay Ataxia Show more (+16) |
Chorea
|
|
Yes
|
♂
|
C
|
ITA
|
n.a.
|
61
|
Yes
|
Chorea
|
||
No
|
♂
|
C
|
ITA
|
n.a.
|
29
|
Yes
|
Chorea
|
||
No
|
♂
|
C
|
ITA
|
n.a.
|
26
|
Yes
|
Chorea
|