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