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
|
-Motor
Ataxia |
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
|
-Motor
Developmental delay Profound global developmental delay Cerebellar signs Tremor, action Severe global developmental delay Delayed gross motor development Ataxia Delayed fine motor development Falls Global developmental delay Chorea Tremor (any or unspecified) Gait impairment Spasticity Dysarthria Motor delay Hyperreflexia 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
|