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