Wang, 2017: Overview of all reported PFBC-PDGFB patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
CHN
5
40
Yes
Anxiety
-Motor
PKD
Attacks - lower limbs
Attacks at rest
Attacks – bilateral
Brain calcification
Attacks - upper limbs
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n.a.
p.Arg78Cys: het
No
A
CHN
1
10
Yes
-Motor
Attacks - lower limbs
Attacks - upper limbs
Brain calcification
Attacks at rest
Attacks – bilateral
PKD
Show more (+4)
n.a.
p.Arg78Cys: het
Yes
A
CHN
16
36
Yes
Attacks - lower limbs
Attacks – bilateral
Attacks at rest
-Motor
Attacks - upper limbs
PKD
Brain calcification
Show more (+4)
n.a.
p.Arg78Cys: het