Ramos, 2018: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
BRA
n.a.
n.a.
Yes
Parkinsonism
-Motor
Bradykinesia
n.a.
Yes
C
FRA
51
n.a.
No
Bradykinesia
Rigidity
-Motor
Dystonia
Parkinsonism
Brain calcification
Dyskinesia
Show more (+4)
n.a.
p.Tyr386*: het
Yes
C
FRA
72
n.a.
No
-Motor
Speech disturbance
Bradykinesia
Tremor (any or unspecified)
Parkinsonism
Rigidity
Brain calcification
Show more (+4)
n.a.
c.289+5G>A: het
Yes
C
FRA
71
n.a.
No
Cognitive decline
Parkinsonism
-Motor
Cerebellar signs
Bradykinesia
Brain calcification
Rigidity
Show more (+4)
n.a.
Yes
C
ITA
68
n.a.
Yes
Cerebellar signs
Parkinsonism
Speech disturbance
Brain calcification
Rigidity
Bradykinesia
-Motor
Show more (+4)
n.a.
Yes
C
FRA
33
n.a.
Yes
Dystonia
Brain calcification
Tremor, action
-Motor
Migraine (any subclass)
Tremor (any or unspecified)
Cerebellar signs
Bradykinesia
Headache
Parkinsonism
Psychotic sign/sympt.
Show more (+8)
n.a.
Yes
C
FRA
40
n.a.
No
Parkinsonism
Brain calcification
Bradykinesia
Tremor (any or unspecified)
Cognitive decline
-Motor
Show more (+3)
n.a.
c.730+1G>T: het
Yes
C
BRA
n.a.
n.a.
Yes
-Motor
Speech disturbance
Bradykinesia
Parkinsonism
Show more (+1)
n.a.
Yes
C
USA
60
n.a.
Yes
Brain calcification
Chorea
Headache
-Motor
Show more (+1)
n.a.
Yes
C
USA
n.a.
n.a.
No
-Motor
Brain calcification
Parkinsonism
Bradykinesia
Rigidity
Show more (+2)
n.a.
Yes
C
FRA
65
n.a.
No
Rigidity
Bradykinesia
-Motor
Brain calcification
Parkinsonism
Show more (+2)
n.a.
p.Arg403*: het
Yes
C
FRA
3
n.a.
Yes
-Motor
Tremor, action
Rigidity
Tremor (any or unspecified)
Cognitive decline
Psychotic sign/sympt.
Ataxia
Cerebellar signs
Parkinsonism
Brain calcification
Postural tremor
Bradykinesia
Show more (+9)
n.a.
Yes
C
FRA
68
n.a.
Yes
Cerebellar signs
Tremor (any or unspecified)
Parkinsonism
Rigidity
Ataxia
Cognitive decline
-Motor
Brain calcification
Bradykinesia
Show more (+6)
n.a.
Yes
C
ITA
3
n.a.
No
Postural tremor
Brain calcification
Tremor, action
Tremor (any or unspecified)
-Motor
Parkinsonism
Bradykinesia
Show more (+4)
n.a.
Yes
C
FRA
44
n.a.
Yes
Rigidity
-Motor
Ataxia
Psychotic sign/sympt.
Parkinsonism
Brain calcification
Bradykinesia
Cerebellar signs
Show more (+5)
n.a.
p.Glu476*: het
No
C
USA
n.a.
n.a.
Yes
Anxiety
Brain calcification
Parkinsonism
-Motor
Dystonia
Show more (+2)
n.a.
Yes
C
FRA
7
n.a.
No
-Motor
Parkinsonism
Brain calcification
Cognitive decline
Tremor (any or unspecified)
Show more (+2)
n.a.
Yes
C
FRA
63
n.a.
No
-Motor
Brain calcification
Psychotic sign/sympt.
n.a.
p.Leu50*: het
Yes
C
FRA
n.a.
n.a.
No
Parkinsonism
Cognitive decline
-Motor
Bradykinesia
Brain calcification
Show more (+2)
n.a.
Yes
C
FRA
76
n.a.
No
Ataxia
Cerebellar signs
Speech disturbance
Brain calcification
-Motor
Depression
Show more (+3)
n.a.
Yes
C
ITA
65
n.a.
Yes
Brain calcification
Dystonia
Cognitive decline
-Motor
Chorea
Show more (+2)
n.a.
p.Gln247*: het
No
C
FRA
26
n.a.
Yes
-Motor
Brain calcification
n.a.