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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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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… Click to show full 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 the ALSP.

Keywords: leukoencephalopathy axonal; adult onset; onset leukoencephalopathy; axonal spheroids; spheroids pigmented; pigmented glia

Journal Title: Movement Disorders Clinical Practice
Year Published: 2022

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