Koht, 2016: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Cerebellar signs
Chorea
Cognitive impairment
Speech disturbance
Show more (+2)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
Dystonia (any or unspecified)
Speech disturbance
Chorea
Cerebellar signs
-Motor
Dystonia
Show more (+3)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Chorea
Speech disturbance
Cerebellar signs
Show more (+1)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
Chorea
-Motor
Dystonia
Cerebellar signs
Show more (+1)
n.a.
No
♀
n.a.
NOR
n.a.
n.a.
Yes
Dystonia
-Motor
Dystonia (any or unspecified)
Chorea
Cerebellar signs
Show more (+2)
n.a.
No
♀
n.a.
NOR
n.a.
n.a.
Yes
Chorea
Ataxia
-Motor
Dystonia
Cerebellar signs
Dystonia (any or unspecified)
Show more (+3)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Chorea
Cerebellar signs
Speech disturbance
Show more (+1)
n.a.
Yes
♀
n.a.
NOR
n.a.
34
Yes
Myoclonus
Chorea
-Motor
Gait impairment
Ataxia
Cerebellar signs
Show more (+3)
Myoclonus
Chorea
Ataxia