Fig 1: (A) Pedigree of the family carrying the PTPRA mutation. ’M’ indicates confirmed heterozygous carriers of PTPRA mutation, italicised ’M’ indicates inferred genotype. Shaded lower right shapes represent PD and upper left represents undiagnosed tremor. Squares represent males, circles represent females and diamonds represent undisclosed gender. Dark triangle represents proband. Diagonal lines represent deceased members. Non-essential pedigree information has been omitted or modified to protect the privacy of the family. Subtext indicates pedigree ID (QPP ID), age / age of death and age at symptom onset. (B) Description of shared rare missense variants identified in three affected cousins. CDS: Coding DNA sequence, gnomAD: Genome Aggregation Database, SGC: Sydney Genomics Collaborative, CADD: Combined Annotation Dependent Depletion. (C) Schematic diagram of the RPTPa protein. Orange lines represent N-linked glycosylation sites. TMD = transmembrane domain. Arrow indicates the R223W mutation. D1 and D2 are the phosphatase domains.