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Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous

Report of nerve biopsy in four cases and review of the literature

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Summary

Peroneal muscular atrophy (PMA) associated with hereditary spastic paraparesis (HSP) is a nosologically ill-defined disease, which has been classified by Dyck as hereditary motor and sensory neuropathy type V (HMSN V). Nerve biopsy has been rarely reported in this condition. We examined sural nerve biopsies in four patients, demonstrating the following: severe myelinated fiber loss especially of large fibers, with moderate (one case) or prominent (one case) onion bulb formation; selective decrease of large fibers with moderate Schwann cell hyperplasia (one case); normal myelinated fiber population with minimal changes (one case). After reviewing previously reported cases, we conclude that in PMA with HSP sural nerve biopsy may show features either of hypertrophic type of PMA, of neuronal type, or of spinal type; thus, it seems inappropriate to allocate PMA with HSP in a unique subtype of HMSN. In addition, HSP may be not associated with peripheral neuropathy, and thus the classification in the HMSN group may be incongrous. A proper classification of PMA with HSP may be in the “complicated” forms of HSP according to Harding [Lancet I: 1151–1155 (1983)]; however, the nosology of this condition needs to be further elucidated, possibly on the basis of the underlying molecular genetic mechanisms of HSP and PMA.

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Authors and Affiliations

  1. Institute of Neurology, University of Parma, Via del Quartiere 4, I-43100, Parma, Italy

    F. Gemignani, P. Bizzi & A. Marbini

  2. Division of Neurology, Santa Maria Nuova Hospital, Reggio Emilia, Italy

    D. Guidetti

  3. Ultrastructural Biology and Pathology Service, Sant'Orsola- Malpighi Hospital, Bologna, Italy

    P. Preda & G. Cenacchi

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  1. F. Gemignani
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  2. D. Guidetti
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  3. P. Bizzi
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  4. P. Preda
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  5. G. Cenacchi
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  6. A. Marbini
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Supported in part by a grant from the Ministero dell'Università e della Ricerca Scientifica e Tecnologica (quota 40% per ricerche di rilevante interesse nazionale)

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Gemignani, F., Guidetti, D., Bizzi, P. et al. Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Acta Neuropathol 83, 196–201 (1992). https://doi.org/10.1007/BF00308479

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  • DOI: https://doi.org/10.1007/BF00308479

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