Articles with "axonal spheroids" as a keyword



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Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia

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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
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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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Published in 2022 at "Movement Disorders Clinical Practice"

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
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Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

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Published in 2018 at "European Journal of Neurology"

DOI: 10.1111/ene.13464

Abstract: To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony‐stimulating factor 1 receptor (CSF1R) mutation. read more here.

Keywords: leukoencephalopathy axonal; adult onset; criteria adult; axonal spheroids ... See more keywords
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Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development

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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

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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
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) in an Indian Man

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Published in 2022 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_919_21

Abstract: Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 720 Dear Editor, Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare cause of adult‐onset leukodystrophy. It… read more here.

Keywords: leukoencephalopathy axonal; neurology; adult onset; onset leukoencephalopathy ... See more keywords