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Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics

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Abstract

We report two autopsy cases of siblings with adult-onset autosomal dominant leukodystrophy characterized by destruction of cerebral white matter, large numbers of axonal spheroids and pigmented glia in the fronto-temporal lobes. Both patients presented with motor and cognitive symptoms and aphasia, 2–3 years before death. At autopsy, the brain showed brown coloration and decreased volume of white matter in the frontal and temporal lobes as well as corpus callosum. Microscopically, marked loss of myelin and axons and abundant axonal spheroids without apparent neuronal loss were observed in the frontal and temporal lobes, which was consistent with hereditary diffuse leukodystrophy with spheroids (HDLS). In addition, glial cells, most consistent with macrophages and containing pigments that were stained by Sudan III and PAS, were found in the white matter lesions. The present cases showed overlapping features with HDLS and pigmentary type of orthochromatic leukodystrophy, suggesting that the pathomechanisms of these two diseases are closely related.

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Acknowledgement

The authors would like to thank Dr. Kei Yamada for his critical comments on the manuscript.

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Authors and Affiliations

  1. Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan

    Kyoko Itoh & Shinji Fushiki

  2. Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan

    Kensuke Shiga, Manabu Muranishi & Masanori Nakagawa

  3. Department of Neurology, Nishi-Kyoto Hospital, Kyoto, Japan

    Kentaro Shimizu

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  1. Kyoko Itoh
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  2. Kensuke Shiga
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  3. Kentaro Shimizu
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  4. Manabu Muranishi
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  5. Masanori Nakagawa
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  6. Shinji Fushiki
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Correspondence to Kyoko Itoh.

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Itoh, K., Shiga, K., Shimizu, K. et al. Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol 111, 39–45 (2006). https://doi.org/10.1007/s00401-005-1113-6

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  • DOI: https://doi.org/10.1007/s00401-005-1113-6

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