若年性認知症の鑑別診断におけるHDLSの位置づけ  [in Japanese] Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) in early-onset dementia  [in Japanese]

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Author(s)

    • 玉岡 晃 Tamaoka Akira
    • 筑波大学医学医療系神経内科学 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba
    • 望月 昭英 Mochizuki Akihide
    • 筑波大学医学医療系長寿医学 Department of Longevity, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba
    • 石井 亜紀子 Ishii Akiko
    • 筑波大学医学医療系神経内科学 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba
    • 山口 哲人 Yamaguchi Tetsuto
    • 筑波大学医学医療系神経内科学 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba
    • 赤松 恵 Akamatsu Megumi
    • 筑波大学医学医療系神経内科学 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba
    • 詫間 浩 Takuma Hiroshi
    • 筑波大学医学医療系神経内科学 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba

Abstract

By reviewing and collating data in a 2-step postal survey sent to all of the institutions for individuals with dementia in Ibaraki prefecture requesting information on early-onset dementia (EOD) cases, 617 subjects with EOD were identified. The estimated prevalence of EOD in the target population was 42.3 per 100,000. Of the illness causing EOD, vascular dementia was the most frequent followed by Alzheimer's disease, head trauma, dementia with Lewy body/Parkinson's disease with dementia, frontotemporal lobar degeneration, and other causes. On the other hand, hereditary diffuse leucoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white matter disease with variable phenotypes. The onset of symptoms is usually in the fourth or fifth decade, progressing to dementia with death within 6 years. Recently, several mutations of the colony stimulating factor 1 receptor encoded by <i>CSF1R</i> segregating HDLS were identified. Since clinical presentations varied substantially within and across families with HDLS, <i>CSF1R</i> mutation carriers may be present in clinical series of Alzheimer's disease, frontotemporal lobar degeneration, corticobasal syndrome, multiple sclerosis, CADASIL, Parkinson's disease and ischemic stroke with additional white matter changes, all causing EOD. In the differential diagnosis of EOD, we should always consider HDLS and if necessary perform <i>CSF1R</i> gene analysis.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 52(11), 1390-1392, 2012

    Societas Neurologica Japonica

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