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