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NEUROLOGY 1992;42:1755
© 1992 American Academy of Neurology

Autosomal recessive form of hereditary motor and sensory neuropathy type I

A. A.W.M. Gabreëls-Festen, MD, F.J.M. Gabreëls, MD, PhD, F. G.I. Jennekens, MD, PhD, E. M.G. Joosten, MD, PhD and T. W.Janssen-van Kempen

Institute of Neurology, University Hospital Nijmegen, Nijmegen (Drs. Gabreëls-Festen, Gabreëls, and Joosten, and T.W. Janssen-van Kempen)
Department of Neurology, University Hospital Utrecht, Utrecht, The Netherlands (Dr. Jennekens).

We studied pathologic changes in sural nerve biopsies from four patients with probable autosomal recessive (AR) hereditary motor and sensory neuropathy (HMSN) type I with a median motor nerve conduction velocity >10 m/sec, comparing them with the pathologic features in autosomal dominant (AD) HMSN type 1. The four recessive and two sporadic cases showed segmental demyelination. However, the classic onion bulbs of concentric Schwann cell processes, which occur in AD type I, were rare; many axons, also of a smaller size, were surrounded by onion bulbs of basal laminae. Schwann cells of the myelinated and unmyelinated types were involved in these onion bulb formations. Patients with HMSN type I who have many basal lamina onion bulbs should be considered as having AR inheritance.

This investigation is part of the research program "Disorders of the Neuromuscular System" of the University of Nijmegen.

Address correspondence and reprint requests to Dr. A.A.W.M. Gabreëls-Festen, Institute of Neurology, University Hospital Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands.

Received December 3, 1991. Accepted for publication in final form February 6, 1992.




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