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Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family.
Pathologica. 1994 Jun; 86(3):279-83.P

Abstract

Three members of a family with a hereditary neuropathy were studied. Light, electron microscopy and teasing of isolated fibres were performed. The findings confirmed the clinical and electrophysiological hypothesis of hypertrophic form of Charcot-Marie-Tooth disease. Hypertrophy of Schwann cells with the formation of onion bulb figures as the most evident ultrastructural feature, besides demyelination, remyelination and mild axonal degeneration. Recent data about the genetic transmission and pathogenesis of the hereditary motor and sensory neuropathies (HMSN) are discussed.

Authors+Show Affiliations

Instituto Adolfo Lutz, Divisão de Patologia, São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7808799

Citation

Calore, E E., et al. "Hypertrophic Motor and Sensory Neuropathy Type I (Charcot-Marie-Tooth Disease): Ultrastructural Study of Sural Nerve Biopsy in Members of a Family." Pathologica, vol. 86, no. 3, 1994, pp. 279-83.
Calore EE, Alonso Neto JL, Cavaliere MJ, et al. Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica. 1994;86(3):279-83.
Calore, E. E., Alonso Neto, J. L., Cavaliere, M. J., Perez, N. M., Russo, D. H., Wakamatsu, A., Maeda, M. Y., & Kitamura, C. (1994). Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica, 86(3), 279-83.
Calore EE, et al. Hypertrophic Motor and Sensory Neuropathy Type I (Charcot-Marie-Tooth Disease): Ultrastructural Study of Sural Nerve Biopsy in Members of a Family. Pathologica. 1994;86(3):279-83. PubMed PMID: 7808799.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. AU - Calore,E E, AU - Alonso Neto,J L, AU - Cavaliere,M J, AU - Perez,N M, AU - Russo,D H, AU - Wakamatsu,A, AU - Maeda,M Y, AU - Kitamura,C, PY - 1994/6/1/pubmed PY - 1994/6/1/medline PY - 1994/6/1/entrez SP - 279 EP - 83 JF - Pathologica JO - Pathologica VL - 86 IS - 3 N2 - Three members of a family with a hereditary neuropathy were studied. Light, electron microscopy and teasing of isolated fibres were performed. The findings confirmed the clinical and electrophysiological hypothesis of hypertrophic form of Charcot-Marie-Tooth disease. Hypertrophy of Schwann cells with the formation of onion bulb figures as the most evident ultrastructural feature, besides demyelination, remyelination and mild axonal degeneration. Recent data about the genetic transmission and pathogenesis of the hereditary motor and sensory neuropathies (HMSN) are discussed. SN - 0031-2983 UR - https://www.unboundmedicine.com/medline/citation/7808799/Hypertrophic_motor_and_sensory_neuropathy_type_I__Charcot_Marie_Tooth_disease_:_ultrastructural_study_of_sural_nerve_biopsy_in_members_of_a_family_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -