Konno, 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
USA
2
11
Yes
Brain calcification
Epileptic seizures (of any type)
-Motor
Epileptic seizures (of any type)
p.Leu170*: het
Yes
C
USA
36
37
Yes
-Motor
Tremor, action
Tremor (any or unspecified)
Headache
Postural tremor
Brain calcification
Cognitive decline
Show more (+4)
Tremor (any or unspecified)
p.Leu170*: het
No
C
USA
49
59
Yes
Hyperreflexia
Tremor, action
Brain calcification
-Motor
Tremor (any or unspecified)
Postural tremor
Show more (+3)
Tremor (any or unspecified)
p.Leu170*: het