Occurrence of Active Demyelinating Lesions in Children with Hereditary Motor and Sensory Neuropathy (HMSN) Type I

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1992 Jan 1

PMID 1441924

Citations 6

Authors

A Vital

C Vital

J Julien

D Fontan

Affiliations

Soon will be listed here.

Abstract

In three children with dominant hereditary motor and sensory neuropathy type I, peripheral nerve biopsy showed the classical lesions of segmental demyelination with remyelination and onion bulb formations. In two cases, ultrastructural examination also demonstrated numerous characteristic features of active demyelination. The presence of active demyelinating lesions suggests an autoimmune attack superimposed on the course of a chronic genetic disease.

Citing Articles

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Van Lent J, Prior R, Perez Siles G, Cutrupi A, Kennerson M, Vangansewinkel T Exp Mol Med. 2024; 56(6):1348-1364.

PMID: 38825644 PMC: 11263568. DOI: 10.1038/s12276-024-01250-x.

Inherited neuropathies.

Schenone A, Nobbio L, Bragadin M, Ursino G, Grandis M Curr Treat Options Neurol. 2011; 13(2):160-79.

PMID: 21286948 DOI: 10.1007/s11940-011-0115-z.

Role of immune cells in animal models for inherited neuropathies: facts and visions.

Maurer M, Kobsar I, Berghoff M, Schmid C, Carenini S, Martini R J Anat. 2002; 200(4):405-14.

PMID: 12090406 PMC: 1570697. DOI: 10.1046/j.1469-7580.2002.00045.x.

Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).

Gabriel C, Gregson N, Wood N, Hughes R J Neurol Neurosurg Psychiatry. 2002; 72(2):230-5.

PMID: 11796774 PMC: 1737757. DOI: 10.1136/jnnp.72.2.230.

The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0.

Carenini S, Maurer M, Werner A, Blazyca H, Toyka K, Schmid C J Cell Biol. 2001; 152(2):301-8.

PMID: 11266447 PMC: 2199607. DOI: 10.1083/jcb.152.2.301.

References

LAMPERT P . Mechanism of demyelination in experimental allergic neuritis. Electron microscopic studies. Lab Invest. 1969; 20(2):127-38. View

BRECHENMACHER C, Vital C, Deminiere C, Laurentjoye L, Castaing Y, Gbikpi-Benissan G . Guillain-Barré syndrome: an ultrastructural study of peripheral nerve in 65 patients. Clin Neuropathol. 1987; 6(1):19-24. View

Honavar M, Tharakan J, Hughes R, Leibowitz S, Winer J . A clinicopathological study of the Guillain-Barré syndrome. Nine cases and literature review. Brain. 1991; 114 ( Pt 3):1245-69. DOI: 10.1093/brain/114.3.1245. View

Madrid R, Bradley W, Davis C . The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci. 1977; 32(1):91-122. DOI: 10.1016/0022-510x(77)90042-9. View

Gabreels-Festen A, Joosten E, Gabreels F, Jennekens F . Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci. 1992; 107(2):145-54. DOI: 10.1016/0022-510x(92)90282-p. View

Prineas J, McLeod J . Chronic relapsing polyneuritis. J Neurol Sci. 1976; 27(4):427-58. DOI: 10.1016/0022-510x(76)90213-6. View

Bird S, Sladky J . Corticosteroid-responsive dominantly inherited neuropathy in childhood. Neurology. 1991; 41(3):437-9. DOI: 10.1212/wnl.41.3.437. View

Antoine J, Michel D, Kopp N, Gonnaud P, Laurent B . [Chronic peripheral neuropathies with corticosensitive heredodegenerative aspects: 2 cases]. Rev Neurol (Paris). 1989; 145(6-7):469-73. View

Vital A, Vital C, BRECHENMACHER C, Fontan D, Castaing Y . Chronic inflammatory demyelinating polyneuropathy in childhood: ultrastructural features of peripheral nerve biopsies in four cases. Eur J Pediatr. 1990; 149(9):654-8. DOI: 10.1007/BF02034757. View

10.

Spencer P, Thomas P . The examination of isolated nerve fibres by light and electron microscopy, with observations on demyelination proximal to neuromas. Acta Neuropathol. 1970; 16(3):177-86. DOI: 10.1007/BF00687357. View

11.

Gabreels-Festen A, Hageman A, Gabreels F, Joosten E, Renier W, Weemaes C . Chronic inflammatory demyelinating polyneuropathy in two siblings. J Neurol Neurosurg Psychiatry. 1986; 49(2):152-6. PMC: 1028680. DOI: 10.1136/jnnp.49.2.152. View

12.

Mitchell G, Bosch E, Hart M . Response to immunosuppressive therapy in patients with hereditary motor and sensory neuropathy and associated dysimmune neuromuscular disorders. Eur Neurol. 1987; 27(3):188-96. DOI: 10.1159/000116154. View

13.

Wisniewski H, Prineas J, Raine C . An ultrastructural study of experimental demyelination and remyelination. I. Acute experimental allergic encephalomyelitis in the peripheral nervous system. Lab Invest. 1969; 21(2):105-18. View

14.

Pasternak J, Fulling K, Nelson J, Prensky A . An infant with chronic, relapsing polyneuropathy responsive to steroids. Dev Med Child Neurol. 1982; 24(4):504-24. DOI: 10.1111/j.1469-8749.1982.tb13657.x. View

15.

Prineas J . Acute idiopathic polyneuritis. An electron microscope study. Lab Invest. 1972; 26(2):133-47. View

16.

Dyck P, Swanson C, Low P, Bartleson J, LAMBERT E . Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc. 1982; 57(4):239-46. View