Keller, 2013: Overview of all reported PFBC-PDGFB patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
BRA
n.a.
46
Yes
Brain calcification
-Motor
n.a.
No
C
FRA
63
63
Yes
-Motor
Brain calcification
Cognitive decline
Psychotic sign/sympt.
Parkinsonism
Show more (+2)
Psychotic sign/sympt.
No
C
n.a.
n.a.
38
Yes
-Motor
Headache
n.a.
p.Met1?: het
No
C
SRB
n.a.
n.a.
Yes
-Motor
Brain calcification
NMS parkinsonism
Athetosis
Dyskinesia
Anxiety
Chorea
Show more (+4)
Dyskinesia
p.Gln145*: het
No
C
SRB
44
47
Yes
Dyskinesia
Brain calcification
Tremor (any or unspecified)
-Motor
Show more (+1)
Dyskinesia
p.Gln145*: het
No
C
SRB
42
43
Yes
-Motor
Cerebellar signs
Chorea
Dyskinesia
NMS parkinsonism
Depression
Brain calcification
Cognitive decline
Anxiety
Show more (+6)
Anxiety
p.Gln145*: het
Yes
C
n.a.
16
30
Yes
Migraine (any subclass)
Parkinsonism
Speech disturbance
Brain calcification
Tremor (any or unspecified)
Depression
Chorea
PKD
Cognitive decline
-Motor
Headache
Show more (+8)
Migraine (any subclass)
p.Leu9Arg: het
No
C
n.a.
n.a.
15
Yes
Cognitive decline
Migraine (any subclass)
Dystonia
-Motor
Headache
Brain calcification
Show more (+3)
n.a.
p.Met1?: het
Yes
C
n.a.
n.a.
34
Yes
-Motor
Headache
Dystonia
Brain calcification
Show more (+1)
n.a.
p.Met1?: het
Yes
C
SRB
36
41
Yes
Depression
Cognitive decline
Dyskinesia
Brain calcification
Parkinsonism
Psychotic sign/sympt.
Ataxia
-Motor
NMS parkinsonism
Show more (+6)
Ataxia
p.Gln145*: het