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
Parkinsonism
Rigidity
Brain calcification
-Motor
Bradykinesia
Dyskinesia
Dystonia
Show more (+4)
n.a.
p.Tyr386*: het
Yes
C
FRA
72
n.a.
No
Rigidity
Brain calcification
Parkinsonism
Tremor (any or unspecified)
-Motor
Bradykinesia
Speech disturbance
Show more (+4)
n.a.
c.289+5G>A: het
Yes
C
FRA
71
n.a.
No
Brain calcification
Bradykinesia
Parkinsonism
-Motor
Cognitive decline
Rigidity
Cerebellar signs
Show more (+4)
n.a.
Yes
C
ITA
68
n.a.
Yes
Rigidity
Speech disturbance
Bradykinesia
-Motor
Parkinsonism
Brain calcification
Cerebellar signs
Show more (+4)
n.a.
Yes
C
FRA
33
n.a.
Yes
Cerebellar signs
Headache
Parkinsonism
Tremor, action
Psychotic sign/sympt.
Tremor (any or unspecified)
-Motor
Bradykinesia
Dystonia
Brain calcification
Migraine (any subclass)
Show more (+8)
n.a.
Yes
C
FRA
40
n.a.
No
Cognitive decline
Bradykinesia
Brain calcification
-Motor
Tremor (any or unspecified)
Parkinsonism
Show more (+3)
n.a.
c.730+1G>T: het
Yes
C
BRA
n.a.
n.a.
Yes
Bradykinesia
Parkinsonism
-Motor
Speech disturbance
Show more (+1)
n.a.
Yes
C
USA
60
n.a.
Yes
-Motor
Chorea
Headache
Brain calcification
Show more (+1)
n.a.
Yes
C
USA
n.a.
n.a.
No
Rigidity
Bradykinesia
Brain calcification
Parkinsonism
-Motor
Show more (+2)
n.a.