Sanchez-Contreras, 2014: Overview of all reported PFBC-PDGFRB patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
USA
78
82
No
Bradykinesia
Cognitive decline
NMS parkinsonism
Speech disturbance
Atypical parkinsonism
Cerebellar signs
-Motor
Brain calcification
Parkinsonism
Postural instability
Rigidity
Tremor (any or unspecified)
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Postural instability