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