Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A

Ursino, Giulia; Alberti, M.; Grandis, Marina; Reni, Lizia; Pareyson, Davide; Bellone, Emilia; Gemelli, Chiara; Sabatelli, Mario; Pisciotta, Chiara; Luigetti, Marco; Santoro, Lucio; Massollo, Laura; Schenone, Angelo

doi:10.1016/j.nmd.2013.07.002

Cited by 18 publications

(20 citation statements)

References 26 publications

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“…They provide a direct radial pathway for metabolite diffusion via gap junctions. These junctions are formed by connexin 32 and, interestingly, mutations of this gene underlie an X-linked form of peripheral neuropathy (Charcot-Marie-Tooth disease) (Scherer, 2006), where the clinical phenotype further worsens in the presence of diabetes (Ursino et al, 2013). …”

Section: Novel Functions Of Oligodendrocytes In Axonal Energy Metabolmentioning

confidence: 99%

New Horizons in Diabetic Neuropathy: Mechanisms, Bioenergetics, and Pain

Feldman

Nave

Jensen

et al. 2017

Neuron

703

616

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Pre-diabetes and diabetes are a global epidemic, and the associated neuropathic complications create a substantial burden on both the afflicted patients and society as a whole. Given the enormity of the problem and the lack of effective therapies, there is a pressing need to understand the mechanisms underlying diabetic neuropathy (DN). In this review, we present the structural components of the peripheral nervous system that underlie its susceptibility to metabolic insults and then discuss the pathways that contribute to peripheral nerve injury in DN. We also discuss systems biology insights gleaned from the recent advances in biotechnology and bioinformatics, emerging ideas centered on the axon-Schwann cell relationship and associated bioenergetic crosstalk, and the rapid expansion in our knowledge of the mechanisms contributing to neuropathic pain in diabetes. These recent advances in our understanding of DN pathogenesis are paving the way for critical mechanism-based therapy development.

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Section: Novel Functions Of Oligodendrocytes In Axonal Energy Metabolmentioning

confidence: 99%

New Horizons in Diabetic Neuropathy: Mechanisms, Bioenergetics, and Pain

Feldman

Nave

Jensen

et al. 2017

Neuron

703

616

View full text Add to dashboard Cite

show abstract

“…1 A radial SNAP was obtained more often in those who were non-obese compared to those who were. It is uncertain if this result was secondary to the obesity itself or if excessive fat deposition at stimulation or recording sites might interfere could have interfered with obtaining the NCS results.…”

Section: Discussionmentioning

confidence: 91%

“…1 CMT 1A is caused by a duplication of the peripheral myelin protein gene 22 ( PMP 22 ) at chromosome 17p11.2-12, which leads to increased PMP 22 expression, and resulting in defective myelin stability and abnormal Schwann-cell growth and differentiation. 2 …”

mentioning

confidence: 99%

“…13 Various hypothesis of how diabetes mellitus type II worsens electrophysiological and clinical outcomes for those with CMT1A include a possible impairment of axonal transport and function of mitochondria in patient with diabetes. 3 …”

mentioning

confidence: 99%

“…A previous study analyzed only 11 patients with elevated BMI and CMT1A and found no significant difference in ulnar NCS, ulnar CMAP, and CMTNS compared to controls. 1 The following paper aims to discover whether one’s BMI can affect nerve conduction studies or the CMTES in those with CMT1A.…”

mentioning

confidence: 99%

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Charcot–Marie–Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot–Marie–Tooth Examination Score

Jerath

Shy

2017

Journal of Clinical Neurophysiology

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Introduction Charcot-Marie-Tooth Disease type 1A (CMT1A) is caused by a duplication of the peripheral myelin protein gene 22 at chromosome 17p11.2-12. There is limited data regarding whether Body Mass Index (BMI) affects electrophysiological or clinical data in those with CMT1A. Methods Electrophysiological data, the Charcot Marie Tooth exam score (CMTES) and BMI from 101 patients with known CMT1A were obtained and analyzed. Results When controlling for age, a higher BMI does not affect ulnar motor nerve conduction studies in those with CTM1A, but rather components of the CMTES (loss of pinprick and motor strength in the lower extremities). Conclusion BMI and clinical components of the CMTES are correlated, but it is uncertain which came first–whether the loss of lower extremity pinprick sensation and motor strength results in a higher BMI or if the higher BMI results in these signs.

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