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Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in  SORL1  which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for  SORL1  mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD.

SORL1 mutation in a Greek family with Parkinson's disease and dementia