Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2

Schröder, Johann Michael; Weis, Joachim; Senderek, Jan

doi:10.1002/9781118618424.ch10

Cited by 2 publications

(1 citation statement)

References 88 publications

(107 reference statements)

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“…Hereditary neuropathy with liability to pressure palsy (HNPP), morphologically presenting as Tomaculous neuropathy shows concentrically thickened myelin sheaths with outfoldings, loops, or infoldings (tomacula), and are best visualised in semithin resin sections and teased fibre preparations 38 , and electron microscopy can demonstrate that the abnormal folding is caused by redundant myelin loops. CMT 2 is characterized by a chronic loss predominantly affecting large myelinated fibres 39 . In CMT2 with MFN2 mutations, electron microscopy shows ultrastructural alterations of axonal mitochondria 40 .…”

Section: Neuropathological Findings In Hereditary Neuropathiesmentioning

confidence: 99%

The pathological diagnosis of nerve biopsies: a practical approach

Brandner

2016

Diagnostic Histopathology

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The approach to the neuropathological assessment of nerve biopsies is the main focus of this review. Nerve biopsies are invasive diagnostic procedures resulting in a permanent neurological deficit, and are therefore carried out only following an in-depth clinical assessment including laboratory, imaging, electrophysiological, and where appropriate also genetic studies. This review will outline the key diagnostic approaches and will discuss neuropathies relevant in clinical practice, caused by vasculitis, inflammatory demyelination, dysproteinaemic, amyloid, toxic agents, and neuropathies due to genetic conditions.

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Section: Neuropathological Findings In Hereditary Neuropathiesmentioning

confidence: 99%

The pathological diagnosis of nerve biopsies: a practical approach

Brandner

2016

Diagnostic Histopathology

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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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Autosomal dominant neuropathy of the axonal Charcot–Marie–Tooth type 2

Cited by 2 publications

References 88 publications

The pathological diagnosis of nerve biopsies: a practical approach

The pathological diagnosis of nerve biopsies: a practical approach

Towards a functional pathology of hereditary neuropathies

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