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
|
Chorea
-Motor Gait impairment |
Chorea
|
|
No
|
♂
|
C
|
ITA
|
n.a.
|
5
|
Yes
|
-Motor
Chorea Ataxia |
Chorea
|
|
No
|
♀
|
C
|
ITA
|
n.a.
|
4
|
Yes
|
Gait impairment
-Motor Cerebellar signs Delayed fine motor development Spasticity Severe global developmental delay Dysarthria Ataxia Profound global developmental delay Falls Delayed gross motor development Chorea Tremor, action Tremor (any or unspecified) Hyperreflexia Motor delay Global developmental delay 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
|