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
Yes
C
FRA
65
n.a.
No
Bradykinesia
Brain calcification
Parkinsonism
-Motor
Rigidity
Show more (+2)
n.a.
p.Arg403*: het
Yes
C
FRA
3
n.a.
Yes
-Motor
Cerebellar signs
Tremor, action
Brain calcification
Postural tremor
Psychotic sign/sympt.
Bradykinesia
Ataxia
Cognitive decline
Parkinsonism
Rigidity
Tremor (any or unspecified)
Show more (+9)
n.a.
Yes
C
FRA
68
n.a.
Yes
Ataxia
Parkinsonism
Brain calcification
-Motor
Rigidity
Bradykinesia
Cognitive decline
Cerebellar signs
Tremor (any or unspecified)
Show more (+6)
n.a.
Yes
C
ITA
3
n.a.
No
Bradykinesia
Tremor (any or unspecified)
Brain calcification
Parkinsonism
-Motor
Tremor, action
Postural tremor
Show more (+4)
n.a.
Yes
C
FRA
44
n.a.
Yes
Cerebellar signs
Parkinsonism
Ataxia
Psychotic sign/sympt.
Brain calcification
-Motor
Bradykinesia
Rigidity
Show more (+5)
n.a.
p.Glu476*: het
No
C
USA
n.a.
n.a.
Yes
Anxiety
Parkinsonism
Brain calcification
Dystonia
-Motor
Show more (+2)
n.a.
Yes
C
FRA
7
n.a.
No
-Motor
Parkinsonism
Brain calcification
Tremor (any or unspecified)
Cognitive decline
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
-Motor
Cognitive decline
Bradykinesia
Brain calcification
Parkinsonism
Show more (+2)
n.a.
Yes
C
FRA
76
n.a.
No
-Motor
Ataxia
Brain calcification
Speech disturbance
Depression
Cerebellar signs
Show more (+3)
n.a.