Diagnostic value of sural nerve demyelination in chronic inflammatory demyelinating polyneuropathy

Bosboom, W. M. J.

doi:10.1093/brain/124.12.2427

Cited by 101 publications

(78 citation statements)

References 27 publications

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“…The diameter of the axons and the thickness of nerve fibers (axon plus myelin) were analyzed with ImageGauge software (Fujifilm). To assess the thickness of the myelin sheath, the g ratio (axon diameter/fiber diameter) was calculated (1,5). Complex figures with folded myelin were excluded.…”

Section: Methodsmentioning

confidence: 99%

Ndrg1-Deficient Mice Exhibit a Progressive Demyelinating Disorder of Peripheral Nerves

Okuda

Higashi

Kokame

et al. 2004

Molecular and Cellular Biology

125

123

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NDRG1 is an intracellular protein that is induced under a number of stress and pathological conditions, and it is thought to be associated with cell growth and differentiation. Recently, human NDRG1 was identified as a gene responsible for hereditary motor and sensory neuropathy-Lom (classified as Charcot-Marie-Tooth disease type 4D), which is characterized by early-onset peripheral neuropathy, leading to severe disability in adulthood. In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D. Histological analysis showed that the sciatic nerve of Ndrg1-deficient mice degenerated with demyelination at about 5 weeks of age. However, myelination of Schwann cells in the sciatic nerve was normal for 2 weeks after birth. Ndrg1-deficient mice showed muscle weakness, especially in the hind limbs, but complicated motor skills were retained. In wild-type mice, NDRG1 was abundantly expressed in the cytoplasm of Schwann cells rather than the myelin sheath. These results indicate that NDRG1 deficiency leads to Schwann cell dysfunction, suggesting that NDRG1 is essential for maintenance of the myelin sheaths in peripheral nerves. These mice will be used for future analyses of the mechanisms of myelin maintenance.NDRG1, an intracellular protein composed of 394 amino acids, is highly conserved among multicellular organisms, and its expression is induced by stress stimuli. Previously, we showed that NDRG1 is induced by homocysteine, 2-mercaptoethanol, and tunicamycin in cultured human endothelial cells (13). This pattern is similar to that seen for molecular chaperones in the endoplasmic reticulum. Subsequently, NDRG1 was found to be upregulated in a human lung cells following treatment with nickel compounds (31). This change in expression reflected an increase in hypoxia-inducible factor 1 caused by hypoxia or the subsequent elevation of intercellular calcium concentrations (23,24). NDRG1 expression is also induced by p53 expression and DNA damage, and its expression is inhibited under conditions of cell growth (14). These results suggest that NDRG1 is involved in the cellular stress response mechanisms.Conversely, Ndrg1 was also identified as a downstream target of N-myc (25). In N-myc knockout mouse embryos, NDRG1 expression is upregulated. During the early stages of differentiation of some tissues, it seems that N-myc activity leads to decreased NDRG1 expression as tissue differentiation progresses. Indeed, NDRG1 has been identified as a gene whose expression is downregulated in tumors (14, 27). Furthermore, NDRG1 expression is induced by differentiation stimuli in cancer cells (21,29). NDRG1 was also reported to be a metastasis suppressor gene (3, 6). In this regard, the effects of NDRG1 are thought to reflect its potential role in cell differentiation.Recently, a nonsense mutation of human NDRG1 was reported to be causative for hereditary motor and sensory neuropathy-Lom (9), which is a severe peripheral neuropathy identified in the Gypsy ...

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Section: Methodsmentioning

confidence: 99%

Ndrg1-Deficient Mice Exhibit a Progressive Demyelinating Disorder of Peripheral Nerves

Okuda

Higashi

Kokame

et al. 2004

Molecular and Cellular Biology

125

123

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“…Most of the articles discussed the nerve biopsy findings in specific diseases, the clinical suspicion of which had prompted the biopsy. [23][24][25][26][27][28][29][30][31][32][33][34] No article provided guidance regarding when to perform a nerve biopsy in the evaluation of DSP.…”

Section: Analysis Of Evidencementioning

confidence: 99%

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) [RETIRED]

England¹,

Gronseth²,

Franklin³

et al. 2009

Neurology

284

142

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“…The electrophysiological criteria in these guidelines are far less strict than the research criteria of the American Academy of Neurology [23]. As a nerve biopsy is of limited diagnostic value in CIDP [24], it was not routinely performed in our patients except in those who did not respond to immunotherapy.…”

Section: Discussionmentioning

confidence: 99%

Contribution of Nerve Biopsy to Unclassified Neuropathy

Schweikert¹,

Fuhr²,

Probst

et al. 2006

Eur Neurol

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Objectives: To evaluate the diagnostic yield of nerve biopsy in patients with peripheral neuropathy of undetermined cause despite extensive diagnostic workup. Methods: From November 2001 through January 2004, 38 patients underwent nerve biopsy because of unclassified neuropathy. Results: The etiology of the neuropathies could be defined in 14 patients (37%), i.e. in 15% of chronic symmetric, 30% of chronic asymmetric, 50% of subacute symmetric and 62.5% of subacute asymmetric neuropathies. The biopsy was diagnostic in 6 patients (16%), where it showed a vasculitis, and supportive in 8 patients (21%). Conclusions: The contribution of nerve biopsy to the diagnosis of peripheral neuropathy was highest in acute and subacute asymmetric forms of neuropathy and lowest in chronic symmetric forms. The main indication for nerve biopsy remains the diagnosis of vasculitic neuropathy, a potentially treatable disorder.

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Diagnostic value of sural nerve demyelination in chronic inflammatory demyelinating polyneuropathy

Cited by 101 publications

References 27 publications

Ndrg1-Deficient Mice Exhibit a Progressive Demyelinating Disorder of Peripheral Nerves

Ndrg1-Deficient Mice Exhibit a Progressive Demyelinating Disorder of Peripheral Nerves

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) [RETIRED]

Contribution of Nerve Biopsy to Unclassified Neuropathy

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