Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A

Yiu, Eppie M; Brockley, Cain; Lee, Katherine J.; Carroll, Kate; Valle, Katy de; Kennedy, Rachel; Rao, Padma; Delatycki, Martin B.; Ryan, Monique M.

doi:10.1212/wnl.0000000000001236

Cited by 46 publications

(60 citation statements)

References 27 publications

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“…An additional comparison of nerve CSA in DSD was made with age‐matched children with CMT1A from a previous study (Yiu et al., 2015). There was less than 7 months difference in age between each child with DSD and their matched CMT1A subject.…”

Section: Resultsmentioning

confidence: 99%

“…We previously showed a marked (two‐ to threefold) and widespread increase in nerve CSA in a genetically homogeneous cohort of children with CMT1A (Yiu et al., 2015). The present study sought to compare nerve CSA in children with DSD to controls, and to children with CMT1A, with the hypothesis that the degree of nerve enlargement in DSD would exceed that of CMT1A, given its generally more severe clinical and neurophysiologic phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…In CMT1A, TTFA is 1.5‐ to twofold that of healthy controls (Gabreels‐Festen, 2002), reflecting the increase in nerve CSA seen by nerve ultrasound (Yiu et al., 2015). Similarly, Gabreels–Festen documented a TTFA/normal ratio of 393%–458% in children with PMP22 missense mutations and a 92%–276% in individuals with MPZ missense mutations; Gabreels‐Festen (2002) findings in keeping with the changes seen in nerve CSA in the present study.…”

Section: Discussionmentioning

confidence: 99%

“…They were recruited from friends and family members of RCH staff and were screened for symptoms and signs of neuromuscular disorders. Data from matched children with CMT1A from a previous study of nerve ultrasound (Yiu et al., 2015) were also used for comparison. For children with CMT1A, age match (within 1 year) was chosen in preference to sex match.…”

Section: Methodsmentioning

confidence: 99%

“…Yiu et al. (2015) found a two‐ to threefold increase in nerve cross‐sectional area (CSA) in children with CMT1A compared to controls. Nerve ultrasound may play a role in the diagnosis of pediatric inherited neuropathies, and in the era of next‐generation sequencing, knowledge of specific nerve sonographic features, in addition to clinical and neurophysiologic findings, may assist in the interpretation of genetic testing results.…”

Section: Introductionmentioning

confidence: 99%

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Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

et al. 2018

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IntroductionThe nerve sonographic features of Dejerine‐Sottas disease (DSD) have not previously been described.MethodsThis exploratory cross‐sectional, matched, case–control study investigated differences in nerve cross‐sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot–Marie–Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with DSD, controls, and CMT1A was determined individually and within each group.ResultsFive children with DSD and five age‐ and sex‐matched controls were enrolled. Data from five age‐matched children with CMT1A was also included. Group comparison showed no mean difference in nerve CSA between children with DSD and controls. Individual analysis of each DSD patient with their matched control indicated an increase in nerve CSA in three of the five children. The largest increase was observed in a child with a heterozygous PMP22 point mutation (nerve CSA fivefold larger than a control and twofold larger than a child with CMT1A). Nerve CSA was moderately increased in two children—one with a heterozygous mutation in MPZ and the other of unknown genetic etiology.ConclusionsChanges in nerve CSA on ultrasonography in children with DSD differ according to the underlying genetic etiology, confirming the variation in underlying pathobiologic processes and downstream morphological abnormalities of DSD subtypes. Nerve ultrasound may assist in the clinical phenotyping of DSD and act as an adjunct to known distinctive clinical and neurophysiologic findings of DSD subtypes. Larger studies in DSD cohorts are required to confirm these findings.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

et al. 2018

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Candidate imaging biomarkers forPMP22‐related inherited neuropathies

Roth

Dortch

2022

Ann Clin Transl Neurol

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Objective Charcot–Marie–Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) are caused by mutations to the peripheral myelin protein 22 (PMP22) gene. A need exists for sensitive and reliable biomarkers of progression and treatment response. Magnetic resonance imaging (MRI) metrics of nerve pathology and morphology were investigated for this purpose. Methods MRI was performed at 3.0 T in the thigh of CMT1A (N = 11) and HNPP patients (N = 12) and controls (N = 23). Three potential imaging biomarkers of the sciatic nerve were investigated: 1) magnetization transfer ratio (MTR), which assays myelin content, and 2) cross‐sectional area (CSA) and 3) circularity, which assay morphological changes. Potential imaging biomarkers were compared across cohorts and assessed for relationships with disability in the legs (CMTESL), compound motor action potentials (CMAP), and motor conduction velocities (MCV). Inter‐rater reliability and test–retest repeatability were established for each imaging metric. Results Significant differences in MTR, CSA, and circularity were observed in CMT1A relative to controls (p = 0.02, p < 0.001, and p = 0.003, respectively, via Wilcoxon rank‐sum tests). Differences were not observed in the HNPP cohort. Significant relationships were observed between MTR and clinical metrics (CMTESL: p = 0.003, CMAP: p = 0.03, MCV: p = 0.01); and between CSA and electrophysiology (CMAP: p = 0.002, MCV: p < 0.001). All metrics were reliable and repeatable with MTR the most reliable (intraclass correlation coefficient [ICC] >0.999, CV = 0.30%) and repeatable (ICC = 0.84, CV = 3.16%). Interpretation MTR, CSA, and circularity showed promise as reliable and sensitive biomarkers of CMT1A, but not HNPP. These warrant longitudinal investigation as response biomarkers in upcoming clinical trials of CMT1A, while other methods should be considered for HNPP.

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Neuromuscular Ultrasound in Polyneuropathies

Nasr‐Eldin,

Cartwright,

Hamed

et al. 2024

J of Ultrasound Medicine

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Neuromuscular ultrasound is a painless, radiation‐free, high‐resolution imaging technique for assessing the peripheral nervous system. It can accurately depict changes in the nerves and muscles of individuals with neuromuscular conditions, and it is therefore a robust diagnostic tool for the assessment of individuals with polyneuropathies. This review will outline the typical ultrasonographic changes found in a wide variety of polyneuropathies. In general, demyelinating conditions result in greater nerve enlargement than axonal conditions, and acquired conditions result in more patchy nerve enlargement compared to diffuse nerve enlargement in hereditary conditions. This review is data‐driven, but more nuanced anecdotal findings are also described. The overall goal of this paper is to provide clinicians with an accessible review of the ultrasonographic approaches and findings in a wide variety of polyneuropathies.

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Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A

Abstract: This study provides Class IV evidence that measurement of nerve CSA by peripheral nerve ultrasound accurately identifies patients with CMT1A.

Cited by 46 publications

References 27 publications

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

Candidate imaging biomarkers forPMP22‐related inherited neuropathies

Neuromuscular Ultrasound in Polyneuropathies

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