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The Plot Thickens

Arch Neurol. 1999;56:1195.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

IN THIS issue of the ARCHIVES, De Jonghe and colleagues¹ describe a family with autosomal dominant hereditary motor and sensory neuropathy (HMSN). Whereas the proband had bilateral pes cavus, slight peroneal weakness, and loss of Achilles reflexes, 12 relatives had nerve conduction velocities (NCVs) in the demyelinative range but were without pes cavus or other neurologic findings. Nerve biopsy specimens in the proband showed segmental demyelination, remyelination, and considerable loss of large myelinated axons. Molecular genetic and linkage studies excluded all known HMSN loci.

The conjunction of segmental demyelination and diminution in the number of large axons, documented in the proband of this family, is frequent in genetic primary Schwann cell disorders.² The paucity of large axons is most likely a consequence of deficient provision by the affected Schwann cells of a paracrine-trophic factor necessary for maintenance of a normal axonal cytoskeleton.^3-4

One message to draw from this interesting article . . . [Full Text of this Article]

RELATED ARTICLE

A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype
Peter De Jonghe, Vincent Timmerman, Eva Nelis, Els De Vriendt, Ann Löfgren, Chantal Ceuterick, Jean-Jacques Martin, and Christine Van Broeckhoven
Arch Neurol. 1999;56(10):1283-1288.
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