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
Cerebellar signs
-Motor
Chorea
Cognitive impairment
Speech disturbance
Show more (+2)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
Cerebellar signs
Speech disturbance
-Motor
Chorea
Dystonia
Dystonia (any or unspecified)
Show more (+3)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
Chorea
Cerebellar signs
-Motor
Speech disturbance
Show more (+1)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
-Motor
Cerebellar signs
Dystonia
Chorea
Show more (+1)
n.a.
No
♀
n.a.
NOR
n.a.
n.a.
Yes
Cerebellar signs
-Motor
Dystonia
Dystonia (any or unspecified)
Chorea
Show more (+2)
n.a.
No
♀
n.a.
NOR
n.a.
n.a.
Yes
Ataxia
Cerebellar signs
Dystonia (any or unspecified)
Dystonia
-Motor
Chorea
Show more (+3)
n.a.
No
♂
n.a.
NOR
n.a.
n.a.
Yes
Cerebellar signs
-Motor
Speech disturbance
Chorea
Show more (+1)
n.a.
Yes
♀
n.a.
NOR
n.a.
34
Yes
Myoclonus
-Motor
Chorea
Gait impairment
Ataxia
Cerebellar signs
Show more (+3)
Myoclonus
Chorea
Ataxia