Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

Piscosquito, Giuseppe; Reilly, Mary M.; Schenone, Angelo; Fabrizi, GM; Cavallaro, Tiziana; Santoro, Lucio; Manganelli, Fiore; Vita, Gian Luca; Quattrone, Aldo; Padua, Luca; Gemignani, F; Visioli, Francesco; Laurá, Matilde; Calabrese, Daniela; Hughes, Rebecca; Radice, Davide; Solari, Alessandra; Pareyson, Davide

doi:10.1111/ene.12783

Cited by 45 publications

(45 citation statements)

References 33 publications

(68 reference statements)

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“…The survey instrument was constructed based on the CMT symptom score (CMTSS) for the evaluation of CMT disease severity and 2 validated questionnaires for the evaluation of outcomes related to CTS, the Boston Carpal Tunnel Questionnaire (BCTQ) and the Disability of Arm, Shoulder, and Hand Questionnaire (DASH) . The DASH, however, is not specific to CTS and has also been used to assess upper limb function in CMT; as such, it was included to assess the overlap in reported symptoms in patients with CMT and CTS.…”

Section: Methodsmentioning

confidence: 99%

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

et al. 2017

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Section: Methodsmentioning

confidence: 99%

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

et al. 2017

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“…In the recent vitamin C trials for CMT1A, the original version of the CMTNS was unable to detect disease progression over two years highlighting the need for new outcome measures [45]. Longitudinal studies using a Rasch modified version of the CMTNS are underway [44].…”

Section: Therapeutic Advances In Cmt2mentioning

confidence: 99%

Recent advances in the genetic neuropathies

Rossor

Tomaselli

Reilly

2016

Current Opinion in Neurology

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Purpose of review Charcot-Marie-Tooth disease (CMT) is one of the commonest inherited neuromuscular diseases with a population prevalence of 1 in 2500. This review will cover recent advances in the genetics and pathomechanisms of CMT and how these are leading to the development of rational therapies. Recent findings Pathomechanistic and therapeutic target advances in CMT include the identification of the ErbB receptor signalling pathway as a therapeutic target in CMT1A and pharmacological modification of the unfolded protein response in CMT1B. In CMT2D, due to mutations in GARS, VEGF-mediated stimulation of the Nrp1 receptor has been identified as a therapeutic target. Preclinical advances have been accompanied by the publication of large natural history cohorts and the identification of a sensitive biomarker of disease (muscle MRI) that is able to detect disease progression in CMT1A over one year. Summary Advances in next generation sequencing technology, cell biology and animal models of CMT are paving the way for rational treatments. The combination of robust natural history data and the identification of sensitive biomarkers mean that we are now entering an exciting therapeutic era in the field of the genetic neuropathies.

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“…It is a validated measure of axonal and demyelinating CMT disability, with high interrater and intrarater reliability but limited sensitivity to change over time . Future longitudinal studies should examine the role of CSA as a biomarker of CMT damage and progression, exploring whether CSA may change in response to effective therapies fast enough to be clinically meaningful and whether it can be combined with secondary clinical measures to overcome limitations of CMTNS2 and to enhance discrimination between severely and mildly affected patients …”

Section: Discussionmentioning

confidence: 99%

Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A

et al. 2019

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Introduction Nerve cross‐sectional area (CSA) is larger than normal in Charcot–Marie–Tooth disease 1A (CMT1A), although to a variable extent. We explored whether CSA is correlated with CMT clinical severity measured with neuropathy score version 2 (CMTNS2) and its examination subscore (CMTES2) in CMT1A. Methods We assessed 56 patients with CMT1A (42 families). They underwent nerve conduction study (NCS) and nerve high‐resolution ultrasound (HRUS) of the left median, ulnar, and fibular nerves. Results Univariate analysis showed NCS and HRUS variables to be significantly correlated with CMTNS2 and CMTES2 and with each other. Multivariate analysis showed that ulnar motor nerve conduction velocity (β: −0.19) and fibular compound muscle action potential amplitude (−1.50) significantly influenced CMTNS2 and that median forearm CSA significantly influenced CMTNS2 (β: 5.29) and CMTES2 (4.28). Discussion Nerve size is significantly associated with clinical scores in CMT1A, which suggests that it might represent a potential biomarker of CMT damage and progression.

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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

Cited by 45 publications

References 33 publications

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Recent advances in the genetic neuropathies

Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A

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