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