Other hereditary neuropathies

Mathis, Stéphane; Tazir, Mériem; Vallat, Jean‐Michel

doi:10.1002/9781118618424.ch21

Cited by 3 publications

(2 citation statements)

References 41 publications

(42 reference statements)

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“…Changes detectable by transmission electron microscopy (TEM) include abnormal myelin folding (Figure 3F), un-or decompacted myelin, macrophage-mediated demyelination, protein aggregates, organelle accumulations and abnormal autophagic vacuoles as well as abnormal inclusions such as zebra and tuff stone bodies in metachromatic leukodystrophies and trilaminar structures in adrenoleukodystrophy/adrenomyeloneuropathy. 17,18 Loss of unmyelinated fibers (Figure 3B) and other alterations of this nerve fiber population, for example, the abnormal processes and basal laminae of Schwann cells in Remak bundles found in CMT4C due to SH3TC2 mutation, 19 are detectable only by TEM as they are beyond the resolving abilities of bright field microscopy. For the diagnosis of small fiber neuropathy, examination of skin biopsies is an established method, which is discussed elsewhere in comparison to nerve biopsy.…”

Section: Electron Microscopymentioning

confidence: 99%

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Weis

Katona

Nikolin

et al. 2021

J Peripheral Nervous Sys

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It is always a challenge to acquire a clear picture of the pathological processes and changes in any disease. For this purpose, it is advantageous to directly examine the affected organ. Nerve biopsy has been a method of choice for decades to classify peripheral neuropathies and to find clues to uncover their etiology. The histologic examination of the peripheral nerve provides information on axonal or myelin pathology as well as on the surrounding connective tissue and vascularization of the nerve. Minimal requirements of the workup include paraffin histology as well as resin semithin section histology. Cryostat sections, teased fiber preparations and electron microscopy are potentially useful in a subset of cases. Here we describe our standard procedures for the workup of the tissue sample and provide examples of diagnostically relevant findings.

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Section: Electron Microscopymentioning

confidence: 99%

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Weis

Katona

Nikolin

et al. 2021

J Peripheral Nervous Sys

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“…Peripheral neuropathies may be part of the clinical manifestations not only of metabolic defects but also of other syndromic conditions 1. Charcot–Marie–Tooth (CMT) disease represents a major part of the hereditary neuropathies without metabolic disorders, along with other neuropathies (figure 1).…”

Section: Introductionmentioning

confidence: 99%

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

et al. 2015

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Value of nerve biopsy in the management of peripheral neuropathies

Mathis

Magy

Masson

et al. 2018

Expert Review of Neurotherapeutics

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Peripheral neuropathy is a common symptom throughout the population, with numerous possible etiologies. The diagnosis of peripheral neuropathies (and their causes) is mainly based on clinical, electrophysiological, biological, and imaging features. Areas covered: This paper reviews the main causes of neuropathy and discusses the usefulness of nerve biopsy (NB) in such cases. Expert commentary: In most cases, NB is not mandatory in the diagnostic work-up of a peripheral neuropathy. However, NB is clearly an indication in cases of vasculitis. It is also valuable in peripheral neuropathies with severe and rapid worsening (without clear cause) in order to uncover a pathological hallmark (amyloid deposits). Although NB is considered an invasive method, it may be useful in the management of peripheral neuropathy, especially to guide treatment in certain cases. In summary, although NB is not a systematic procedure, it is a useful tool that should be discussed on a case-by-case basis within the clinical context.

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Other hereditary neuropathies

Cited by 3 publications

References 41 publications

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

Value of nerve biopsy in the management of peripheral neuropathies

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