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
Dysarthria
Chorea
Gait impairment
Motor delay
Myoclonus
-Motor
Dystonia, oromandibular
Axial hypotonia
Dyskinesia
Show more (+6)
Gait impairment
No
B
PAK
3
3
Yes
-Motor
Motor delay
Chorea
Dyskinesia
Dysarthria
Hyperreflexia
Show more (+3)
n.a.
Yes
C
FIN
0
n.a.
Yes
Dyskinesia
Axial hypotonia
-Motor
Motor delay
Dysarthria
Chorea
Delayed speech and language development
Gait impairment
Show more (+5)
n.a.
Yes
B
PAK
5
5
Yes
-Motor
Dyskinesia
Cerebellar signs
Hyperreflexia
Cognitive impairment
Motor delay
Tremor, intention
Chorea
Dysarthria
Gait impairment
Tremor (any or unspecified)
Show more (+8)
n.a.
No
B
PAK
n.a.
15
Yes
Dysarthria
Hyperreflexia
Gait impairment
Chorea
Axial hypotonia
Dyskinesia
-Motor
Show more (+4)
n.a.
No
C
FIN
0
n.a.
Yes
Delayed speech and language development
Dyskinesia
Chorea
Dysarthria
Gait impairment
-Motor
Axial hypotonia
Seizures
Motor delay
Show more (+6)
n.a.