Peripheral Nerve Disorders 2014
DOI: 10.1002/9781118618424.ch21
|View full text |Cite
|
Sign up to set email alerts
|

Other hereditary neuropathies

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

0
2
0

Year Published

2015
2015
2021
2021

Publication Types

Select...
3

Relationship

1
2

Authors

Journals

citations
Cited by 3 publications
(2 citation statements)
references
References 41 publications
0
2
0
Order By: Relevance
“…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%
“…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%
“…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%