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