Yamada, 2014: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
JPN
58
64
Yes
Cerebellar signs
Rigidity
Speech disturbance
-Motor
Brain calcification
Parkinsonism
Bradykinesia
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n.a.
Yes
A
JPN
75
78
No
Dyskinesia
Tremor at rest
-Motor
Cognitive decline
Brain calcification
Tremor (any or unspecified)
Athetosis
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Athetosis
Yes
A
JPN
71
n.a.
Yes
Tremor (any or unspecified)
Bradykinesia
Brain calcification
Cognitive decline
Parkinsonism
Rigidity
-Motor
Postural instability
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Parkinsonism
p.Arg71His: het
Yes
A
JPN
23
26
Yes
Chorea
Trigger: Exercise
Athetosis
Brain calcification
PKD
-Motor
Dyskinesia
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Dyskinesia
p.Arg467*: het
Yes
A
JPN
50
54
Yes
Brain calcification
Rigidity
-Motor
Parkinsonism
Cerebellar signs
Cognitive decline
Bradykinesia
Speech disturbance
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n.a.