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Article

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2016

Stabile Carmen, Taglia Ilaria, Battisti Carla, Bianchi Silvia, Federico Antonio

Abstract excerpt

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental and motor dysfunctions. Patients carry mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1R) which is a tyrosine kinase receptor...

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PMID: 27338940
DOI: 10.1007/s10072-016-2634-6

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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.PMID 27338940Read ↗

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