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