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Novel CSF1R variant in adult-onset leukoencephalopathy masquerading as frontotemporal dementia: a follow-up study.

Neurocase - 1 Dec 2021

Arshad Faheem, Vengalil Seena, Maskomani Silambarasan, Kamath Sneha Dayanand, Kulanthaivelu Karthik, Mundlamuri Ravindranadh Chowdary, Yadav Ravi, Nalini Atchayaram

Abstract excerpt

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease manifesting as progressive cognitive decline, pyramidal, and extrapyramidal features resulting from mutations in the colony-stimulating factor-1 receptor (CSF1R) gene. We describe a sporadic case of a young man who developed five months history of progressive cognitive decline with...

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PMID: 34983323
DOI: 10.1080/13554794.2021.2022704

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