白質脳症の鑑別診断と治療

DOI
  • 曽根 淳
    名古屋大学大学院医学系研究科難治性神経疾患治療学

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  • Differential diagnosis and treatment of leukoencephalopathy

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<p>White matter disorders or leukoencephalopathies comprise disorders that exclusively or predominantly affect the white matter of the brain. In this section, we pick up 5 white matter disorders in the limelight, that is, neuronal intranuclear inclusion disease (NIID), fragile X tremor–ataxia syndrome (FXTAS), hereditary diffuse leukoencephalopathy with spheroids (HDLS), CADASIL and Alexander disease. NIID is a neurodegenerative disease characterized by eosinophilic intranuclear inclusion in neuronal and other organ cells in H&E slides. Recently, we reported that skin biopsy is useful for antemortem diagnosis of sporadic and familial NIID, and the number of NIID cases increase remarkably. Sporadic NIID presented dementia, ataxia, bladder dysfunction, general convulsion. And laboratory data showed leukoencephalopathy, DWI high intensity in cortico–medurally junction, NCV abnormality and protein level elevation in cerebrospinal fluid. Familial NIID classified in two groups, dementia dominant group and weakness dominant group. FXTAS present tremor and ataxia. MCP sign of head MRI is characteristics observation. Histopathological feature of intranuclear inclusion of FXTAS is resemble to those of NIID, so analysis of FMR1 CGG repeat is necessary to exclude NIID. HDLS onset age is from 40 to 50 years of age, and present dementia and personality change. White matter damage around lateral ventricle and thinning of corpus callosum are characteristics observation. Neuropathological feature of HDLS is the presence of neuroaxonal spheroids. CSF–1R has been identified as a causative gene. CADASIL present migraine with aura, subcortical ischaemic events, mood disturbances, apathy, cognitive impairment and dementia. Histopathological investigation shows a specific arteriopathy affecting the small penetrating arteries that show a thickening of the arterial wall, the presence of a non–amyloid granular osmophilic material within the media. This arteriopathy is also present in skin. NOTCH3 is reported as causative gene. Alexander disease caused by dominant mutations in the GFAP gene. Three age–dependent clinical subtypes have been adopted, but recently, new categories in two subtypes based on phenotype analysis with GFAP mutation. Head MRI pattern of young patient showed extensive white matter abnormalities with frontal predominance, and adult–onset patients present atrophy of the lower brainstem extending caudally to the cervical spinal cord.</p>

収録刊行物

  • 神経治療学

    神経治療学 33 (2), 131-133, 2016

    日本神経治療学会

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