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
Yes
B
PAK
5
5
Yes
Cognitive impairment
Cerebellar signs
Chorea
Dysarthria
-Motor symptoms
Motor delay
Gait impairment
Tremor, intention
Hyperreflexia
Dyskinesia
Tremor (any or unspecified)
Show more (+8)
n.a.
No
B
PAK
n.a.
15
Yes
Hyperreflexia
-Motor symptoms
Dyskinesia
Dysarthria
Chorea
Gait impairment
Show more (+3)
n.a.
No
B
PAK
3
3
Yes
Dysarthria
Hyperreflexia
-Motor symptoms
Motor delay
Dyskinesia
Chorea
Show more (+3)
n.a.
No
B
PAK
n.a.
16
Yes
-Motor symptoms
Dyskinesia
Gait impairment
Motor delay
Dystonia, oromandibular
Dysarthria
Myoclonus
Chorea
Show more (+5)
Gait impairment
Yes
C
FIN
0
n.a.
Yes
Gait impairment
Dyskinesia
Delayed speech and language development
Motor delay
Chorea
-Motor symptoms
Dysarthria
Show more (+4)
n.a.
No
C
FIN
0
n.a.
Yes
Dysarthria
Chorea
Dyskinesia
Gait impairment
Delayed speech and language development
-Motor symptoms
Seizures
Motor delay
Show more (+5)
n.a.