Diggle, 2016: Overview of all reported CHOR-PDE10A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
B
|
PAK
|
n.a.
|
16
|
Yes
|
Axial hypotonia
-Motor Chorea Dysarthria Dyskinesia Dystonia, oromandibular Motor delay Gait impairment Myoclonus Show more (+6) |
Gait impairment
|
|
No
|
♀
|
B
|
PAK
|
3
|
3
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
FIN
|
0
|
n.a.
|
Yes
|
Delayed speech and language development
Dyskinesia Axial hypotonia -Motor Gait impairment Dysarthria Chorea Motor delay Show more (+5) |
n.a.
|
|
Yes
|
♂
|
B
|
PAK
|
5
|
5
|
Yes
|
Tremor, intention
Dysarthria Hyperreflexia -Motor Cerebellar signs Cognitive impairment Dyskinesia Gait impairment Tremor (any or unspecified) Chorea Motor delay Show more (+8) |
n.a.
|
|
No
|
♀
|
B
|
PAK
|
n.a.
|
15
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
FIN
|
0
|
n.a.
|
Yes
|
Gait impairment
Dyskinesia Dysarthria -Motor Chorea Axial hypotonia Motor delay Delayed speech and language development Seizures Show more (+6) |
n.a.
|