Doyle, 2004: 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.
n.a.
n.a.
n.a.
Yes
-Motor
Gait impairment
Falls
Motor delay
Show more (+1)
n.a.
c.464-2A>C: het
Yes
n.a.
n.a.
n.a.
10
Yes
Dysarthria
Gait impairment
Cerebellar signs
Motor delay
Ataxia
-Motor
Speech disturbance
Chorea
Show more (+5)
Ataxia
Chorea
c.464-2A>C: het
No
n.a.
n.a.
n.a.
n.a.
Yes
Falls
Gait impairment
-Motor
Motor delay
Ataxia
Show more (+2)
Ataxia
c.464-2A>C: het
No
n.a.
n.a.
n.a.
n.a.
Yes
-Motor
Cerebellar signs
Speech disturbance
Dysarthria
Gait impairment
Motor delay
Ataxia
Chorea
Show more (+5)
Ataxia
Chorea
c.464-2A>C: het