Breedveld, 2002: 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
C
ITA
n.a.
33
Yes
-Motor
Gait impairment
Ataxia
Chorea
Show more (+1)
Chorea
No
C
ITA
n.a.
3
Yes
-Motor
Ataxia
Ataxia
Yes
n.a.
GBR
0
16
Yes
Chorea
Motor delay
Speech disturbance
Gait impairment
Athetosis
-Motor
Show more (+3)
Chorea
No
C
ITA
n.a.
27
Yes
Gait impairment
Chorea
-Motor
Chorea
No
C
ITA
n.a.
5
Yes
-Motor
Ataxia
Chorea
Chorea
No
C
ITA
n.a.
4
Yes
Delayed fine motor development
Global developmental delay
Profound global developmental delay
Tremor, action
-Motor
Gait impairment
Chorea
Developmental delay
Hyperreflexia
Falls
Tremor (any or unspecified)
Dysarthria
Delayed gross motor development
Spasticity
Tremor, intention
Cerebellar signs
Motor delay
Severe global developmental delay
Ataxia
Show more (+16)
Chorea
Yes
C
ITA
n.a.
61
Yes
Chorea
Ataxia
-Motor
Gait impairment
Show more (+1)
Chorea
No
C
ITA
n.a.
29
Yes
Gait impairment
-Motor
Chorea
Ataxia
Show more (+1)
Chorea
No
C
ITA
n.a.
26
Yes
Ataxia
Chorea
Gait impairment
-Motor
Show more (+1)
Chorea