David, 2016: Overview of all reported PFBC-SLC20A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
FRA
57
61
Yes
-Motor
Cognitive decline
Dystonia
Brain calcification
Tremor (any or unspecified)
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n.a.
No
C
FRA
n.a.
62
Yes
Brain calcification
Cognitive decline
-Motor
Bradykinesia
Epileptic seizures (of any type)
Parkinsonism
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n.a.
Yes
C
FRA
66
76
Yes
-Motor
Ataxia
Cerebellar signs
Brain calcification
Depression
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n.a.
No
C
FRA
54
75
Yes
Brain calcification
Speech disturbance
Bradykinesia
-Motor
Parkinsonism
Cognitive decline
Rigidity
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n.a.
Yes
C
FRA
34
57
Yes
Brain calcification
Headache
Cognitive decline
-Motor
Depression
Migraine (any subclass)
Speech disturbance
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n.a.
Yes
C
FRA
20
63
Yes
Brain calcification
Tremor (any or unspecified)
Parkinsonism
Rigidity
Speech disturbance
Cognitive decline
Tremor, action
-Motor
Bradykinesia
Migraine (any subclass)
Ataxia
Headache
Cerebellar signs
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n.a.