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Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study

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Abstract

While both neuronal intermediate filament inclusion disease (NIFID) and basophilic inclusion body disease (BIBD) show frontotemporal lobar degeneration and/or motor neuron disease, it remains unclear whether, and how, these diseases differ from each other. Here, we compared the clinicopathological characteristics of four BIBD and two NIFID cases. Atypical initial symptoms included weakness, dysarthria, and memory impairment in BIBD, and dysarthria in NIFID. Dementia developed more than 1 year after the onset in some BIBD and NIFID cases. Upper and lower motor neuron signs, parkinsonism, and parietal symptoms were noted in both diseases, and involuntary movements in BIBD. Pathologically, severe caudate atrophy was consistently found in both diseases. Cerebral atrophy was distributed in the convexity of the fronto-parietal region in NIFID cases. In both BIBD and NIFID, the frontotemporal cortex including the precentral gyrus, caudate nucleus, putamen, globus pallidus, thalamus, amygdala, hippocampus including the dentate gyrus, substantia nigra, and pyramidal tract were severely affected, whereas lower motor neuron degeneration was minimal. While α-internexin-positive inclusions without cores were found in both NIFID cases, one NIFID case also had α-internexin- and neurofilament-negative, but p62-positive, cytoplasmic spherical inclusions with eosinophilic p62-negative cores. These two types of inclusions frequently coexisted in the same neuron. In three BIBD cases, inclusions were tau-, α-synuclein-, α-internexin-, and neurofilament-negative, but occasionally p62-positive. These findings suggest that: (1) the clinical features and distribution of neuronal loss are similar in BIBD and NIFID, and (2) an unknown protein besides α-internexin and neurofilament may play a pivotal pathogenetic role in at least some NIFID cases.

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Acknowledgments

We would like to thank Ms. H. Kondo (Department of Neuropathology, Tokyo Institute of Psychiatry), Ms. M. Onbe (Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences), Mr. T. Yoshimura (Kinoko Espoir Hospital), and Mr. Y. Shoda and Ms. K. Suzuki (Tokyo Institute of Psychiatry) for their excellent technical assistance and Mr. A. Sasaki for help with the production of the manuscript. This work was supported by a grant-in-aid for scientific research from the Ministry of Education, Culture, Sports, Science and Technology (14570957) and a research grant from the Zikei Institute of Psychiatry.

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Correspondence to Osamu Yokota.

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Yokota, O., Tsuchiya, K., Terada, S. et al. Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study. Acta Neuropathol 115, 561–575 (2008). https://doi.org/10.1007/s00401-007-0329-z

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  • DOI: https://doi.org/10.1007/s00401-007-0329-z

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