Legati, 2015: 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.
63
Yes
Parkinsonism
Psychotic sign/sympt.
Brain calcification
-Motor
NMS parkinsonism
Show more (+2)
n.a.
No
C
SWE
n.a.
28
Yes
Epileptic seizures (of any type)
Depression
Brain calcification
-Motor
Show more (+1)
n.a.
No
C
FRA
n.a.
43
Yes
Brain calcification
NMS parkinsonism
-Motor
Speech disturbance
Show more (+1)
n.a.
Yes
C
FRA
n.a.
73
No
Sleep disorder
-Motor
Parkinsonism
NMS parkinsonism
Brain calcification
Cognitive decline
Show more (+3)
n.a.
Yes
C
FRA
n.a.
56
No
NMS parkinsonism
-Motor
Cognitive decline
Brain calcification
Cerebellar signs
Speech disturbance
Show more (+3)
n.a.
Yes
C
SWE
44
47
Yes
-Motor
Epileptic seizures (of any type)
Brain calcification
Speech disturbance
Show more (+1)
n.a.
No
C
SWE
n.a.
44
Yes
-Motor
Brain calcification
Tremor (any or unspecified)
Ataxia
Show more (+1)
n.a.