Yao, 2018: Overview of all reported PFBC-MYORG patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
n.a.
42
Yes
Cerebellar signs
Speech disturbance
Brain calcification
-Motor symptoms
Show more (+1)
n.a.
Yes
A
CHN
n.a.
44
Yes
Brain calcification
Cognitive decline
Cerebellar signs
Speech disturbance
Ataxia
-Motor symptoms
Show more (+3)
n.a.
p.Trp75*: hom
No
A
CHN
n.a.
40
Yes
Speech disturbance
Brain calcification
Cerebellar signs
Cognitive decline
-Motor symptoms
Show more (+2)
n.a.
Yes
A
CHN
n.a.
55
Yes
Cerebellar signs
Brain calcification
Ataxia
Cognitive decline
Chorea
Speech disturbance
-Motor symptoms
Show more (+4)
n.a.
Yes
A
CHN
n.a.
40
No
Speech disturbance
Cerebellar signs
Brain calcification
Ataxia
-Motor symptoms
Show more (+2)
n.a.
No
A
CHN
n.a.
46
Yes
-Motor symptoms
Brain calcification
Speech disturbance
Cerebellar signs
Ataxia
Show more (+2)
n.a.
p.Trp75*: hom