CIDP, CMT1B, or CMT1B plus CIDP?

Cardellini, Davide; Zanette, Giampietro; Taioli, Federica; Bertolasi, Laura; Ferrari, Sergio; Cavallaro, Tiziana; Fabrizi, Gian Maria

doi:10.1007/s10072-020-04789-5

Cited by 7 publications

(6 citation statements)

References 10 publications

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“…There is some evidence that alterations in peripheral nerve myelin can lead to inflammation of nerves. This is seen in the reports of inflammation typical of CIDP, or the onset of clinical features of CIDP in people with various types of Charcot Marie Tooth (CMT) disease (312)(313)(314). This is highly suggestive that variation in the structure of nerves could possibly lead to vulnerability to inflammation.…”

Section: Discussionmentioning

confidence: 95%

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

et al. 2022

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Guillain Barré syndrome (GBS) and its variants, and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP and its variants, are regarded as immune mediated neuropathies. Unlike in many autoimmune disorders, GBS and CIDP are more common in males than females. Sex is not a clear predictor of outcome. Experimental autoimmune neuritis (EAN) is an animal model of these diseases, but there are no studies of the effects of sex in EAN. The pathogenesis of GBS and CIDP involves immune response to non-protein antigens, antigen presentation through non-conventional T cells and, in CIDP with nodopathy, IgG4 antibody responses to antigens. There are some reported sex differences in some of these elements of the immune system and we speculate that these sex differences could contribute to the male predominance of these diseases, and suggest that sex differences in peripheral nerves is a topic worthy of further study.

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Section: Discussionmentioning

confidence: 95%

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

et al. 2022

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“…CMT can manifest in heterogeneous ways, with variable phenotypic presentation even among subjects belonging to the same family [ 2 ]. In rare cases, the CMT phenotype could be worsened by a superimposed inflammatory process [ 3 , 4 ]. The classification of CMT is based on the type of inheritance (autosomal dominant, AD; autosomal recessive, AR; X-linked) and on the results of upper limb motor nerve conduction studies: CMT1, predominantly demyelinating, is characterized by nerve velocity under 38 m/s; CMT2, predominantly axonal, presents motor velocities above 38 m/s.…”

Section: Introductionmentioning

confidence: 99%

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

et al. 2021

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(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, MORC2, HINT1, LITAF, GARS, and autosomal dominant GDAP1 are responsible for only a minority of CMT cases. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes (BSCL2, MORC2, HINT1, LITAF, GARS, autosomal dominant GDAP1). We studied 17 patients from 8 unrelated families. All subjects underwent neurologic evaluation and genetic testing by next-generation sequencing on an Ion Torrent PGM (Thermo Fischer) with a 44-gene custom panel. (3) Results: the following variants were found: BSCL2 c.263A > G p.Asn88Ser (eight subjects), MORC2 c.1503A > T p.Gln501His (one subject), HINT1 c.110G > C p.Arg37Pro (one subject), LITAF c.404C > G p.Pro135Arg (two subjects), GARS c.1660G > A p.Asp554Asn (three subjects), GDAP1 c.374G > A p.Arg125Gln (two subjects). (4) Expanding the spectrum of CMT phenotypes is of high relevance, especially for less common variants that have a higher risk of remaining undiagnosed. The necessity of reaching a genetic definition for most patients is great, potentially making them eligible for future experimentations.

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“…In our case, the electrophysiology and muscle strength changes in the early disease stage were highly inconsistent, which is a rare clinical phenomenon, but it also exists in CMT1 with other gene mutation ( 24 ), and the specific mechanism is unknown. Recently, copy number variants have been found to be responsible for the phenotypes of numerous inherited disorders ( 25 , 26 ).…”

Section: Discussionmentioning

confidence: 73%

“…With the advances in molecular analysis and neuroimaging techniques ( 24 , 34 ) in the last decade, most patients with a genetic basis for their neuropathy can now be given a firm and specific diagnosis. Similarly, strict criteria now exist for the diagnosis of CIDP, emphasizing neurophysiological measurements.…”

Section: Discussionmentioning

confidence: 99%

Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot–Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection

Li,

Yu,

Zhou

et al. 2024

Front. Neurol.

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BackgroundThere is growing evidence that severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) or COVID-19 infection is associated with the development of immune mediated neuropathies like chronic inflammatory demyelinating polyneuropathy (CIDP), but the impact of SARS-CoV-2 vaccination and COVID-19 infection on genetic disorders such as Charcot–MarieTooth (CMT) remains unclear.Case presentationA 42-year-old male with occulted CMT neuropathy type lA (CMT1A) who developed limb numbness and weakness after the second SARS-CoV-2-vaccination was confirmed by identifying characteristic repeats in the p11.2 region of chromosome 17. Due to the progressive deterioration of muscle strength over 8 weeks, limb atrophy, moderately elevated protein counts in the cerebrospinal fluid, and significant improvement with intravenous human immunoglobulin, which were characteristic of acquired inflammatory neuropathies, he was eventually diagnosed with CIDP superimposed on CMT1A. However, after a three-month plateau, the patient contracted COVID-19, which led to repeated and worsening symptoms of limb weakness and atrophy, thus was diagnosed with a recurrence of CIDP and treated with Intravenous immunoglobulin and methylprednisolone 500 mg/d for 5 consecutive days, followed by oral prednisone and mycophenolate mofetil tablets. On 2 month follow-up, he exhibited remarkable clinical improvement and could walk independently with rocking gait. After 1 year of follow-up, the patient’s condition was stable without further change.ConclusionOur case indicates that CMT1A can deteriorate after SARS-CoV-2 vaccination. Thus, SARS-CoV-2 vaccination should be considered a potential predisposing factor for CMT1A worsening. The possible superposition of CMTIA and CIDP in the context of SARS-CoV-2 infection or immunity suggests that any clinical exacerbation in patients with CMT1A should be carefully evaluated to rule out treatable superposition inflammation. In addition, electrophysiological and imaging examination of the proximal nerves, such as the axillary nerve, is helpful for the diagnosis of CIDP.

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CIDP, CMT1B, or CMT1B plus CIDP?

Cited by 7 publications

References 10 publications

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

Sex differences in Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and experimental autoimmune neuritis

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot–Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection

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