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