Anheim, 2016: 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
n.a.
n.a.
Yes
NMS parkinsonism
Parkinsonism
Brain calcification
Cerebellar signs
-Motor
Speech disturbance
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n.a.
p.Leu87Pro: het
Yes
C
FRA
31
41
Yes
Speech disturbance
Anxiety
Ataxia
-Motor
NMS parkinsonism
Cognitive decline
Rigidity
Bradykinesia
Cerebellar signs
Parkinsonism
Brain calcification
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Speech disturbance
p.Leu87Pro: het