Chen, 2012: Overview of all reported CHOR-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
DEU
|
5
|
8
|
Yes
|
Facial twitches
Gait impairment -Motor Trigger: Stress Trigger: Sudden movement Dyskinesia Seizures Paroxysmal dyskinesia Chorea Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Dyskinesia
|
n.a.
|
|
No
|
♂
|
C
|
DEU
|
n.a.
|
50
|
Yes
|
Ballism
-Motor Myokymia Hyperreflexia Dyskinesia Chorea Trigger: Sudden movement Trigger: Stress Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Dyskinesia
|
n.a.
|
|
Yes
|
♂
|
C
|
DEU
|
5
|
n.a.
|
Yes
|
Dyskinesia
Facial twitches Hyperreflexia |
n.a.
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Chorea
Hyperreflexia Dyskinesia |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
n.a.
|
n.a.
|
Yes
|
Dyskinesia
|
n.a.
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
42
|
Yes
|
Tremor (any or unspecified)
Facial twitches Gait impairment Hyperreflexia -Motor Tremor, head Paroxysmal dyskinesia Chorea Myokymia Dyskinesia Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
39
|
Yes
|
n.a.
|
||
No
|
♀
|
C
|
DEU
|
6
|
7
|
Yes
|
n.a.
|