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CSF1R-Related Leukoencephalopathy Caused by CSF1R p.Arg777Trp and CSF1R p.Arg782Cys Mutations: A Report of Four Cases in Sweden

2021-07-20

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Colony stimulating factor 1 receptor (<italic>CSF1R)</italic>-related leukoencephalopathy is a rare and devastating genetic disease caused by heterozygous mutations in the <italic>CSF1R</italic> gene. It is characterized by adult onset, rapidly progressive neurodegeneration and variable behavioral, cognitive, and motor disturbances and seizures. With only one af...

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Literature Corpus work: 5de8c913-c17f-55df-8ae9-80fa3db7491c
DOI: 10.21203/rs.3.rs-718394/v1

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