Koyama, 2017: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
JPN
n.a.
89
Yes
-Motor
Brain calcification
Tremor (any or unspecified)
Tremor at rest
Show more (+1)
n.a.
Yes
A
JPN
60
62
Yes
Bradykinesia
Brain calcification
Parkinsonism
Tremor (any or unspecified)
-Motor
Show more (+2)
Bradykinesia
Yes
A
JPN
74
79
Yes
Parkinsonism
Psychotic sign/sympt.
-Motor
Depression
Cognitive decline
Brain calcification
Show more (+3)
n.a.
p.Gly90Val: het