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About: Hereditary diffuse leukoencephalopathy with spheroids     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatNeurologicalDisordersyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:GeneticDisease114151139yago:IllHealth114052046yago:Illness114061805yago:NervousDisorder114084880yago:PathologicalState114051917yago:PhysicalCondition114034177yago:WikicatGeneticDisordersdiseaseyago:State100024720 New Facet based on Instances of this Class

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant disorder characterized by cerebral white matter degeneration with demyelination and axonal spheroids leading to progressive cognitive and motor dysfunction. Spheroids are axonal swellings with discontinuous or absence of myelin sheaths. It is believed that the disease arises from primary microglial dysfunction that leads to secondary disruption of axonal integrity, neuroaxonal damage, and focal axonal spheroids leading to demyelination. Spheroids in HDLS resemble to some extent those produced by shear stress in a closed head injury with damage to axons, causing them to swell due to blockage of axoplasmic transport. In addition to trauma, axonal spheroids can be found in aged brain, stroke,