Hsu, 2013: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Yes
Dystonia
Headache
Depression
-Motor
Brain calcification
Show more (+2)
n.a.
p.Lys172*: het
No
n.a.
USA
58
n.a.
Yes
Parkinsonism
-Motor
Brain calcification
n.a.
p.Leu170*: het
No
n.a.
USA
6
24
Yes
-Motor
Dystonia
Chorea
Brain calcification
Show more (+1)
n.a.
p.Leu170*: het
No
C
n.a.
n.a.
72
Yes
Rigidity
Psychotic sign/sympt.
Cognitive decline
Depression
Cerebellar signs
-Motor
Brain calcification
Parkinsonism
Show more (+5)
Psychotic sign/sympt.
Depression
No
n.a.
USA
5
23
Yes
-Motor
Dystonia
Tremor (any or unspecified)
Brain calcification
Show more (+1)
n.a.
p.Leu170*: het
Yes
n.a.
USA
18
54
Yes
Tremor, action
Brain calcification
Chorea
Tremor (any or unspecified)
Dystonia
-Motor
Show more (+3)
Tremor (any or unspecified)
p.Leu170*: het
No
C
GBR
n.a.
73
Yes
-Motor
Brain calcification
Parkinsonism
Cognitive decline
Show more (+1)
Parkinsonism
Cognitive decline
Yes
n.a.
JA
RUS
n.a.
n.a.
Yes
Tremor (any or unspecified)
-Motor
Parkinsonism
Psychotic sign/sympt.
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Yes
Speech disturbance
-Motor
Brain calcification
Parkinsonism
Show more (+1)
n.a.
No
C
GBR
n.a.
69
Yes
Ataxia
-Motor
Speech disturbance
Bradykinesia
Cerebellar signs
Brain calcification
Cognitive decline
Show more (+4)
Speech disturbance