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
Brain calcification
-Motor
Parkinsonism
Cognitive decline
Psychotic sign/sympt.
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
Brain calcification
Athetosis
Chorea
-Motor
Dyskinesia
NMS parkinsonism
Anxiety
Show more (+4)
Dyskinesia
p.Gln145*: het
No
C
SRB
44
47
Yes
Brain calcification
-Motor
Dyskinesia
Tremor (any or unspecified)
Show more (+1)
Dyskinesia
p.Gln145*: het
No
C
SRB
42
43
Yes
-Motor
Cerebellar signs
Depression
Dyskinesia
Cognitive decline
Chorea
NMS parkinsonism
Brain calcification
Anxiety
Show more (+6)
Anxiety
p.Gln145*: het
Yes
C
n.a.
16
30
Yes
Migraine (any subclass)
Tremor (any or unspecified)
Parkinsonism
PKD
Cognitive decline
Chorea
Speech disturbance
-Motor
Brain calcification
Depression
Headache
Show more (+8)
Migraine (any subclass)
p.Leu9Arg: het
No
C
n.a.
n.a.
15
Yes
Headache
Brain calcification
Migraine (any subclass)
Cognitive decline
Dystonia
-Motor
Show more (+3)
n.a.
p.Met1?: het
Yes
C
n.a.
n.a.
34
Yes
Dystonia
Headache
Brain calcification
-Motor
Show more (+1)
n.a.
p.Met1?: het
Yes
C
SRB
36
41
Yes
Ataxia
Depression
NMS parkinsonism
Parkinsonism
Cognitive decline
-Motor
Brain calcification
Psychotic sign/sympt.
Dyskinesia
Show more (+6)
Ataxia
p.Gln145*: het
No
C
SRB
45
54
Yes
Brain calcification
-Motor
Chorea
Speech disturbance
Show more (+1)
n.a.
p.Gln145*: het
No
C
n.a.
13
56
Yes
Brain calcification
NMS parkinsonism
Cerebellar signs
Ataxia
Headache
-Motor
Parkinsonism
Migraine (any subclass)
Postural tremor
Tremor (any or unspecified)
Depression
Show more (+8)
Migraine (any subclass)
p.Leu9Arg: het
Yes
C
FRA
n.a.
26
Yes
Parkinsonism
Brain calcification
Cognitive decline
Dyskinesia
Psychotic sign/sympt.
-Motor
NMS parkinsonism
Dystonia
Show more (+5)
Psychotic sign/sympt.
No
C
n.a.
12
21
Yes
Cerebellar signs
Parkinsonism
NMS parkinsonism
Tremor (any or unspecified)
Rigidity
Ataxia
Tremor, action
Bradykinesia
-Motor
Brain calcification
Postural tremor
Cognitive decline
Chorea
Show more (+10)
n.a.
p.Leu9Arg: het
No
C
n.a.
14
26
Yes
NMS parkinsonism
Parkinsonism
Brain calcification
Postural tremor
Cognitive decline
Headache
Cerebellar signs
Chorea
PKD
Tremor (any or unspecified)
Migraine (any subclass)
-Motor
Show more (+9)
Migraine (any subclass)
p.Leu9Arg: het