Usefulness of the modified F-ratio for assessmentsof proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed onCharcot Marie–Tooth disease type 1A

Kume, Kodai; Deguchi, Kazushi; Ikeda, Kazuyo; Takata, Tadayuki; Kokudo, Yasutaka; Kamada, Masaki; Tsukaguchi, Masago; Touge, Tetsuo; Masaki, Tsutomu

doi:10.1016/j.jns.2014.05.046

Cited by 8 publications

(12 citation statements)

References 9 publications

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“…Kume et al 27 described a 48-year-old patient with loss of finger dexterity and hand pains. Examination showed pes cavus, distal atrophy, moderate weakness of the intrinsic hand and distal lower limb muscles and hyporeflexia.…”

Section: Resultsmentioning

confidence: 99%

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Rajabally

Adams

Latour

et al. 2016

J Neurol Neurosurg Psychiatry

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International audienceDistinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is less clear. The advent of molecular genetics has in the past several years aided confirmatory diagnosis for an increasing proportion of patients with genetic neuropathy. Various reports have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory neuropathy occasionally responding to immunotherapy. Possible predisposition to an inflammatory component was suggested in a subset of patients. Such reports have, however, been relatively few in number, suggesting the rarity of such associations and of such a predisposition if it exists. There have been a number of publications detailing clinical presentations suggestive of inflammatory neuropathy in patients with a known or later proven genetic aetiology, and subsequently felt to be part of the phenotype rather than representing an association. A number of genetically mediated multisystemic diseases with neuropathy have otherwise been reported as mimicking chronic inflammatory demyelinating polyneuropathy (CIDP). The most common example is that of familial amyloid polyneuropathy, of particular concern for the clinician when misdiagnosed as CIDP, in view of the therapeutic implications. We review the literature on reported associations, mimics and misdiagnoses of hereditary and inflammatory neuropathy and attempt to determine a practical approach to the problem in clinical practice using clinical features, electrophysiology, histopathology and targeted early genetic testing. The issue of attempting immunomodulatory therapy is discussed in view of the published literature

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Section: Resultsmentioning

confidence: 99%

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Rajabally

Adams

Latour

et al. 2016

J Neurol Neurosurg Psychiatry

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“…noted lymphocytic infiltration in the epineurium and macrophage‐associated demyelination in superficial fibular nerve specimens . The remarkable findings were that seven of 10 CMT1A and two of two HNPP patients had pain in any part of their bodies, and four of 14 patients with CMT1A and HNPP became “intravenous immunoglobulin therapy (IVIG)‐dependent” . In addition, Carvalho et al.…”

Section: Cmts With Acute and Chronic Immune‐mediated Neuropathiesmentioning

confidence: 99%

“…Some CMT1A with PMP22 duplication or HNPP patients with PMP22 deletion presenting with CIDP‐like exacerbation have been described (Tables ,) . The age ranged from 18 months to 69 years for CMT1A, and 35 to 54 years for HNPP.…”

Section: Cmts With Acute and Chronic Immune‐mediated Neuropathiesmentioning

confidence: 99%

Charcot–Marie–Tooth disease and neuroinflammation

Kokubun

2020

Clinical & Exp Neuroim

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| INTRODUC TI ONDemyelinating forms of Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are demyelinating peripheral nerve disorders that present with a chronic course. Both of them can show muscle weakness in four limbs with areflexia and conduction slowing in the "demyelinating range." CMT and CIDP also share pathological findings, such as thin myelinated fibers or onion bulb formation, at least partly. An essential difference between the two syndromes might be the clinical course. CMT presents a slowly progressive course for several decades, whereas CIDP shows a progression of several weeks or months. However, the misdiagnosis of CMT and CIDP is common. 1,2 Even in a clinical trial by experts in this field that had strict inclusion criteria, the misdiagnosis of CMT and CIDP could occur. 3 Two possibilities arise on this issue: first is simple misdiagnosis, and second is that CMT itself has underlying immunological pathophysiology or vulnerability to immune abnormalities. Here, I describe (i) the similarities and differences in clinical symptoms in CMT and CIDP; and (ii) the similarities and differences in neurophysiological features; and (iii) then review the features of CMT with acute and chronic immune-mediated neuropathies. Abstract Patients with the misdiagnosis or co-occurrence of Charcot-Marie-Tooth disease (CMT) and inflammatory neuropathies have been reported previously. Both CMT and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have similar clinical features, including flaccid weakness in four limbs with areflexia, demyelinating neurophysiological features and pathological demyelination. However, the symptoms of CIDP progress for several weeks or months, and typical CIDP shows proximal and distal muscle weakness. In contrast, CMT progresses for several decades and presents distal-dominant muscle weakness, which is called length-dependent neuropathy. On neurophysiological evaluation, CMT had been considered to show "uniform conduction slowing." However, a recent study showed that CMT could show non-uniform conduction abnormalities, which resemble inflammatory neuropathies.Furthermore, the incidence of inflammatory neuropathy in CMT is estimated to be higher than that in the general population. CMT1A with CIDP was the most common, followed by CMTX1 with CIDP and CMT1A with Guillain-Barré syndrome. Some patients showed macrophage-associated demyelination or mononuclear cell infiltrations in their nerves. Most patients responded to immune therapies at least partly.The pathophysiology in such patients has not yet been elucidated. However, the involvement of the immune system in the development of demyelination in CMT was established by experimental animal studies, and vulnerability to immune abnormalities is suggested in abnormal myelin.

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“…There is currently no pharmacological cure and the only treatment available is rehabilitative therapy. However, chronic inflammation [3,4] that develops as the disease progresses suggests that treatment with effective anti-inflammatory could improve prognosis. In this sense, epigallocatechin gallate (EGCG), the main polyphenol in green tea, is Medicina 2021, 57, 104 2 of 7 characterised by its high anti-inflammatory capacity, shown to be especially effective in improving mitochondrial activity by regulating its metabolism, leading to an increase in biogenesis and bioenergy [5].…”

Section: Introductionmentioning

confidence: 99%

Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report

Bustos¹,

Selvi-Sabater

Benlloch

et al. 2021

Medicina

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Background and objectives: The aim of this study was to report a case of a patient with Charcot-Marie-Tooth disease type 2 (CMT2) treated with epigallocatechin gallate (EGCG) for 4 months in order to assess its therapeutic potential in CMT2. Materials and Methods: The study included a brother and a sister who have CMT2. The sister received 800 mg of EGCG for 4 months, while her brother received placebo for the same period of time. Both participants were assessed before and after daily administration by means of anthropometry; analysis of inflammatory and oxidation markers of interleukin-6 (IL-6) and paraoxonase 1 (PON1) in the blood sample; and motor tests: 2-min walk test (2MWT), 10-m walk test (10MWT), nine-hole peg test (9HPT) and handgrip strength measurement using a handheld Jamar dynamometer. Results: Regarding muscular and motor functions associated with higher inflammation and oxidation, improvements only observed in the woman in all analysed parameters (both biochemical and clinical associated with the metabolism and functionality) after 4 months of treatment with EGCG are noteworthy. Thus, this treatment is proposed as a good candidate to treat the disease.

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Usefulness of the modified F-ratio for assessmentsof proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed onCharcot Marie–Tooth disease type 1A

Cited by 8 publications

References 9 publications

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Charcot–Marie–Tooth disease and neuroinflammation

Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report

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