Mi, 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
CHN
62
70
Yes
-Motor
Brain calcification
n.a.
p.Tyr386*: het
Yes
A
CHN
66
68
Yes
Bradykinesia
Parkinsonism
Psychotic sign/sympt.
Tremor (any or unspecified)
Speech disturbance
Brain calcification
-Motor
Cognitive decline
Postural tremor
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n.a.
p.Tyr386*: het