Ramos, 2018: Overview of all reported PFBC-XPR1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
FRA
69
n.a.
Yes
-Motor
Cerebellar signs
Brain calcification
Ataxia
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n.a.
Yes
C
FRA
29
n.a.
Yes
-Motor
Parkinsonism
Speech disturbance
Psychotic sign/sympt.
Cognitive decline
Brain calcification
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n.a.
No
C
FRA
38
n.a.
Yes
-Motor
Bradykinesia
Brain calcification
n.a.
Yes
C
FRA
55
n.a.
No
-Motor
Cognitive decline
Bradykinesia
Parkinsonism
Brain calcification
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n.a.