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Adult-onset rod disease with abundant intranuclear rods

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Summary

The third case of adult-onset rod disease (nemaline myopathy) with abundant myofibrillar as well as intranuclear rods is described. The 61-year-old woman suffered from progressive weakness of proximal extremities and of the neck, mimicking polymyositis. Muscle biopsy revealed a striking myopathic pattern, with intranuclear rods occurring in 31% of the fibres. On light and electron microscopy and by immunohistochemical study, the rods differed from myofibrillar rods. The absence of α-actinin in intranuclear rods suggests an enhanced readiness of actin filaments to bind to diverse proteins, instead of overproduction of α-actinin as the pathogenetic basis of the rod formation.

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Authors and Affiliations

  1. Institut für Hirnforschung, Eberhard-Karls-Universität, Calwer Str. 3, D-7400, Tübingen, Federal Republic of Germany

    W. Paulus, J. Peiffer, I. Becker & W. Roggendorf

  2. Neurologische Klinik, Chrisophsbad Göppingen, D-7320, Göppingen, Federal Republic of Germany

    F. Schumm

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  1. W. Paulus
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  2. J. Peiffer
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  3. I. Becker
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  4. W. Roggendorf
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Paulus, W., Peiffer, J., Becker, I. et al. Adult-onset rod disease with abundant intranuclear rods. J Neurol 235, 343–347 (1988). https://doi.org/10.1007/BF00314229

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  • DOI: https://doi.org/10.1007/BF00314229

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