Glik, 2008: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
JA
ISR
n.a.
35
Yes
Athetosis
Speech disturbance
Tremor, action
Chorea
Tremor (any or unspecified)
-Motor
Dystonia
Dystonia (any or unspecified)
Psychotic sign/sympt.
Hypothyroidism
Show more (+7)
Chorea
p.Ser217*: het
No
♂
JA
ISR
n.a.
n.a.
Yes
Chorea
-Motor
Hypothyroidism
Athetosis
Show more (+1)
Chorea
p.Ser217*: het
No
♂
JA
ISR
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Chorea
Postural tremor, upper limb
Tremor, intention
Tremor, limb
Athetosis
Show more (+4)
Chorea
p.Ser217*: het