Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51656
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) leads to rapidly progressive dementia and is caused by mutations in the gene CSF1R. Neurodegeneration is driven by dysfunction of microglia, the predominant cell type expressing… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords
Report of A Family with Adult‐Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2
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DOI: 10.1002/mdc3.13650
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder with characteristic clinicopathological features. Identification of pathogenic mutations in CSF1R, AARS1, and AARS2 genes led to increased recognition and diagnosis of… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.788168
Abstract: A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1077_21
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant neurodegenerative disease resulting from heterozygous mutations in the colony‐stimulating factor 1 receptor gene.[1] ALSP is a challenging diagnosis in the absence… read more here.
Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids ... See more keywords