Mencacci, 2015: 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
|
GBR
|
1
|
64
|
Yes
|
n.a.
|
||
Yes
|
♂
|
B
|
PAK
|
2
|
22
|
No
|
Chorea
Paroxysmal dyskinesia Dystonia, hand Motor delay Attacks at rest Dystonia, foot Gait impairment Cerebellar signs Dystonia, axial Dyskinesia Trigger: Anxiety Dystonia, limb -Motor Delayed gross motor development Trigger: Stress Ballism Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
1
|
36
|
Yes
|
-Motor
Trigger: Stress Chorea Dysarthria Dystonia, task-specific Facial twitches Trigger: Sleep deprivation Ballism Dyskinesia Attacks at rest Gait impairment Show more (+8) |
Chorea
|