The significance of giant vacuolation of endoneurial fibroblasts

Ak, Asbury; Sc, Cox; Baringer,

doi:10.1007/bf00687600

Cited by 24 publications

(2 citation statements)

References 10 publications

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“…Fibroblasts containing large indentations and vacuoles have been reported in various experimental and hereditary neuropathies such as hereditary sensory neuropathy, hypertrophic neuropathy (Asbury, Cox and Baringer, 1971) and neurofibromatosis and GBS . Vacuolated fibroblasts are normal in Renaut bodies (see Section 4.3.11).…”

Section: Fibroblastsmentioning

confidence: 99%

The Diagnostic Electron Microscopy of Nerve

King

2012

Diagnostic Electron Microscopy – A Practical Guide to Interpretation and Technique

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Section: Fibroblastsmentioning

confidence: 99%

The Diagnostic Electron Microscopy of Nerve

King

2012

Diagnostic Electron Microscopy – A Practical Guide to Interpretation and Technique

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“…The number of collagen fibers is increased and the fibers are arranged in longitudinal bundles between lamellae. Vacuolated fibroblasts may be seen in advanced cases and are found in the periphery or between onion bulbs (98).…”

Section: Electron Microscopymentioning

confidence: 99%

Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1A

Lupski

García

1992

Brain Pathology

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Charcot-Marie-Tooth (CMT) syndrome describes a genetically and clinically heterogeneous group of polyneuropathies. Electrophysiologically, at least two types of CMT can be distinguished; CMT1 which has decreased nerve conduction velocities (NCV) and CMT2 which has normal or near normal NCV with decreased amplitudes. For CMT1, three gene loci (on chromosomes 1, 17 and the X chromosome) have been mapped. The locus on chromosome 17, CMT type 1A (CMT1A), is responsible for the most common form of CMT which has recently been shown to be associated with a large DNA duplication. Recent data demonstrates that the CMT1A phenotype results from an inherited DNA rearrangement and a gene dosage effect. The trembler (Tr) and allelic tremblerJ (TrJ) mice have been proposed as animal models for CMT. Tr has similar electrophysiological and neuropathological features to CMT1 patients and maps to mouse chromosome 11 in a region of conserved synteny with human chromosome 17p. Tr and TrJ have recently been shown to have different point mutations in regions encoding putative transmembrane domains of the myelin specific protein PMP-22. The human peripheral nerve-specific PMP-22 gene maps within the CMT1A duplication. PMP-22 is thus a candidate gene for CMT1A. This paper describes the molecular genetics of CMT1A and sural nerve pathology in CMT1A patients with the CMT1A duplication.

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Hereditary Sensory Neuropathy, Type II

et al. 1973

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Members of a kinship with recessive hereditary sensory neuropathy (HSN-type II) and a person from another kinship with the dominant hereditary variety (HSN-type I) were investigated with quantitative studies of cutaneous touch-pressure, temperature discrimination, and pricking pain sensations, in vitro study of compound action potential and histologic studies of sural nerve biopsy specimens, and analysis of lipids of open liver biopsy specimens. In contrast to the type I disorder, the type II disorder is already present at birth or shortly thereafter, sensation is abnormal more diffusely over the body, touch-pressure sensation is affected more than pain and temperature sensations, and myelinated fibers are more affected than unmyelinated fibers. No lipid abnormality was found.

show abstract

The significance of giant vacuolation of endoneurial fibroblasts

Cited by 24 publications

References 10 publications

The Diagnostic Electron Microscopy of Nerve

The Diagnostic Electron Microscopy of Nerve

Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1A

Hereditary Sensory Neuropathy, Type II

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