Open AccessSORL1 mutation in a Greek family with Parkinson's disease and dementia
Author(s) -
Xiromerisiou Georgia,
Bourinaris Thomas,
Houlden Henry,
Lewis Patrick A.,
Senkevich Konstantin,
Hammer Monia,
Federoff Monica,
Khan Alaa,
Spanaki Cleanthe,
Hadjigeorgiou Georgios M.,
Bonstanjopoulou Sevasti,
Fidani Liana,
Ermolaev Aleksey,
GanOr Ziv,
Singleton Andrew,
Vandrovcova Jana,
Hardy John
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51433
Subject(s) - dementia , medicine , disease , haplotype , exome sequencing , genetics , phenotype , mutation , allele , biology , gene , pathology
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.