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
|
Gait impairment
Dysarthria Myoclonus Dyskinesia Dystonia, oromandibular Chorea -Motor Motor delay Axial hypotonia Show more (+6) |
Gait impairment
|
|
No
|
♀
|
B
|
PAK
|
3
|
3
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
FIN
|
0
|
n.a.
|
Yes
|
Dyskinesia
Chorea Gait impairment Dysarthria -Motor Axial hypotonia Delayed speech and language development Motor delay Show more (+5) |
n.a.
|
|
Yes
|
♂
|
B
|
PAK
|
5
|
5
|
Yes
|
Cerebellar signs
Hyperreflexia Motor delay Tremor, intention Gait impairment -Motor Chorea Cognitive impairment Dyskinesia Dysarthria Tremor (any or unspecified) Show more (+8) |
n.a.
|
|
No
|
♀
|
B
|
PAK
|
n.a.
|
15
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
FIN
|
0
|
n.a.
|
Yes
|
Dysarthria
Motor delay Seizures Gait impairment -Motor Axial hypotonia Delayed speech and language development Chorea Dyskinesia Show more (+6) |
n.a.
|