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Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases.
J Neuropathol Exp Neurol. 1980 Jul; 39(4):420-40.JN

Abstract

The neuropathologic features of two cases of Charcot-Marie-Tooth disease associated with hypertrophic neuropathy are described. The peripheral nerves had a loss of myelinated fibers, endoneurial fibrosis, and numerous onion-bulb formations. The most severe changes were seen in the distal nerves. In the older of the two patients, advanced changes were also observed in the proximal nerves and anterior roots and were associated with neuronal degeneration in the anterior horns and dorsal root ganglia. The muscles were the site of chronic denervation atrophy, which was most severe in the distal portions of the lower extremities. In one of the cases, the autopsy findings were complemented by sural nerve biopsy studies, which confirmed the presence of segmental demyelination and remyelination, axonal degeneration, and Schwann cell proliferation in the form of onion bulbs. Our observations support the concept of a primary neuronal abnormality in the hypertrophic type of Charcot-Marie-Tooth disease (HN-CMT). The disorder appears to initially involve the distal axonal processes but, with progression of the disease, also involves the proximal axons, eventually leading to degeneration and loss of neurons in the anterior horns and dorsal root ganglia. Onion-bulb formation generally parallels nerve fiber degeneration, suggesting that segmental demyelination and onion bulbs may occur secondary to axonal degeneration. The possibility of a concomitant Schwann cell abnormality cannot be excluded, however, on the basis of our postmortem studies.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6260904

Citation

Smith, T W., et al. "Charcot-Marie-Tooth Disease Associated With Hypertrophic Neuropathy: a Neuropathologic Study of Two Cases." Journal of Neuropathology and Experimental Neurology, vol. 39, no. 4, 1980, pp. 420-40.
Smith TW, Bhawan J, Keller RB, et al. Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases. J Neuropathol Exp Neurol. 1980;39(4):420-40.
Smith, T. W., Bhawan, J., Keller, R. B., & DeGirolami, U. (1980). Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases. Journal of Neuropathology and Experimental Neurology, 39(4), 420-40.
Smith TW, et al. Charcot-Marie-Tooth Disease Associated With Hypertrophic Neuropathy: a Neuropathologic Study of Two Cases. J Neuropathol Exp Neurol. 1980;39(4):420-40. PubMed PMID: 6260904.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease associated with hypertrophic neuropathy: a neuropathologic study of two cases. AU - Smith,T W, AU - Bhawan,J, AU - Keller,R B, AU - DeGirolami,U, PY - 1980/7/1/pubmed PY - 1980/7/1/medline PY - 1980/7/1/entrez SP - 420 EP - 40 JF - Journal of neuropathology and experimental neurology JO - J. Neuropathol. Exp. Neurol. VL - 39 IS - 4 N2 - The neuropathologic features of two cases of Charcot-Marie-Tooth disease associated with hypertrophic neuropathy are described. The peripheral nerves had a loss of myelinated fibers, endoneurial fibrosis, and numerous onion-bulb formations. The most severe changes were seen in the distal nerves. In the older of the two patients, advanced changes were also observed in the proximal nerves and anterior roots and were associated with neuronal degeneration in the anterior horns and dorsal root ganglia. The muscles were the site of chronic denervation atrophy, which was most severe in the distal portions of the lower extremities. In one of the cases, the autopsy findings were complemented by sural nerve biopsy studies, which confirmed the presence of segmental demyelination and remyelination, axonal degeneration, and Schwann cell proliferation in the form of onion bulbs. Our observations support the concept of a primary neuronal abnormality in the hypertrophic type of Charcot-Marie-Tooth disease (HN-CMT). The disorder appears to initially involve the distal axonal processes but, with progression of the disease, also involves the proximal axons, eventually leading to degeneration and loss of neurons in the anterior horns and dorsal root ganglia. Onion-bulb formation generally parallels nerve fiber degeneration, suggesting that segmental demyelination and onion bulbs may occur secondary to axonal degeneration. The possibility of a concomitant Schwann cell abnormality cannot be excluded, however, on the basis of our postmortem studies. SN - 0022-3069 UR - https://www.unboundmedicine.com/medline/citation/6260904/Charcot_Marie_Tooth_disease_associated_with_hypertrophic_neuropathy:_a_neuropathologic_study_of_two_cases_ L2 - https://academic.oup.com/jnen/article-lookup/doi/10.1097/00005072-198007000-00003 DB - PRIME DP - Unbound Medicine ER -