Article
Decreased CSF1R Signaling and the Accumulation of Reticular Pseudo-Drusen?
Ophthalmic surgery, lasers & imaging retina - 1 Dec 2021
Harford Deirdre A, Delaney Conor, O'Callaghan Jeffrey, Hudson Natalie, Connolly Ruairi, Doyle Sarah, Farrell Michael, Doherty Colin P, Cahill Mark, Campbell Matthew
Abstract excerpt
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by dominant-acting mutations in the gene colony-stimulating factor 1 receptor (CSF1R). It is an ultra-rare leukoencephalopathy that involves demyelination of white matter and early-onset dementia. It has been well validated that mutations in the kinase region of the gene cause decreased signaling of the receptor via its two...
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