Peripheral nerve involvement in neurolipidoses

Ouvrier, Robert; Menezes, Manoj P.

doi:10.1002/9781118618424.ch20

Cited by 2 publications

(1 citation statement)

References 47 publications

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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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Towards a functional pathology of hereditary neuropathies

et al. 2016

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A growing number of hereditary neuropathies have been assigned to causative gene defects in recent years. The study of human nerve biopsy samples has contributed substantially to the discovery of many of these neuropathy genes. Genotype-phenotype correlations based on peripheral nerve pathology have provided a comprehensive picture of the consequences of these mutations. Intriguingly, several gene defects lead to distinguishable lesion patterns that can be studied in nerve biopsies. These characteristic features include the loss of certain nerve fiber populations and a large spectrum of distinct structural changes of axons, Schwann cells and other components of peripheral nerves. In several instances the lesion patterns are directly or indirectly linked to the known functions of the mutated gene. The present review is designed to provide an overview on these characteristic patterns. It also considers other aspects important for the manifestation and pathology of hereditary neuropathies including the role of inflammation, effects of chemotherapeutic agents and alterations detectable in skin biopsies.

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Peripheral nerve involvement in neurolipidoses

Cited by 2 publications

References 47 publications

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Techniques for the standard histological and ultrastructural assessment of nerve biopsies

Towards a functional pathology of hereditary neuropathies

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