Tags

Type your tag names separated by a space and hit enter

Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases.
J Neurol Sci. 1994 Mar; 122(1):20-7.JN

Abstract

We describe 3 patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs). Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy (HMSN). The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. Sural nerve biopsy revealed a demyelinating process with prominent hypertrophic changes and excessive MOs formation. The percentage of MOs was significantly higher than in 3 age-matched HMSN Ia patients. MOs were morphologically and morphometrically different from tomacular-like thickenings of myelin. Myelin thickness was significantly lower than in the three HMSN Ia controls and linear regression showed a thinner myelin related to axon diameter. The reported cases demonstrate that HMSN with MOs is a well defined variant of HMSN and that a primary defect in the myelination process may be proposed as a possible pathogenic mechanism.

Authors+Show Affiliations

Institute of Neurology, University of Genoa, Italy.No affiliation info availableNo affiliation info availableNo 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
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8195799

Citation

Schenone, A, et al. "Hereditary Motor and Sensory Neuropathy With Myelin Outfolding: Clinical, Genetic and Neuropathological Study of Three Cases." Journal of the Neurological Sciences, vol. 122, no. 1, 1994, pp. 20-7.
Schenone A, Abbruzzese M, Uccelli A, et al. Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases. J Neurol Sci. 1994;122(1):20-7.
Schenone, A., Abbruzzese, M., Uccelli, A., Mandich, P., James, R., Bellone, E., Giunchedi, M., Rolando, S., Capello, E., & Mandich R [corrected to Mandich, P. ]. (1994). Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases. Journal of the Neurological Sciences, 122(1), 20-7.
Schenone A, et al. Hereditary Motor and Sensory Neuropathy With Myelin Outfolding: Clinical, Genetic and Neuropathological Study of Three Cases. J Neurol Sci. 1994;122(1):20-7. PubMed PMID: 8195799.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases. A1 - Schenone,A, AU - Abbruzzese,M, AU - Uccelli,A, AU - Mandich,P, AU - James,R, AU - Bellone,E, AU - Giunchedi,M, AU - Rolando,S, AU - Capello,E, AU - Mandich R [corrected to Mandich,P ], PY - 1994/3/1/pubmed PY - 1994/3/1/medline PY - 1994/3/1/entrez SP - 20 EP - 7 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 122 IS - 1 N2 - We describe 3 patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs). Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy (HMSN). The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. Sural nerve biopsy revealed a demyelinating process with prominent hypertrophic changes and excessive MOs formation. The percentage of MOs was significantly higher than in 3 age-matched HMSN Ia patients. MOs were morphologically and morphometrically different from tomacular-like thickenings of myelin. Myelin thickness was significantly lower than in the three HMSN Ia controls and linear regression showed a thinner myelin related to axon diameter. The reported cases demonstrate that HMSN with MOs is a well defined variant of HMSN and that a primary defect in the myelination process may be proposed as a possible pathogenic mechanism. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/8195799/Hereditary_motor_and_sensory_neuropathy_with_myelin_outfolding:_clinical_genetic_and_neuropathological_study_of_three_cases_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(94)90047-7 DB - PRIME DP - Unbound Medicine ER -