2019
DOI: 10.1016/j.ensci.2019.100200
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Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype

Abstract: Case series reports on clinical features of pediatric hereditary neuropathy in Thailand is scarce. Subtype and clinical presentation in childhood-onset CMT differ from adult-onset. The aim of this study is to investigate the CMT phenotype in Thai children. We retrospectively reviewed children diagnosed with CMT who followed up with Pediatric Neurology, Siriraj Hospital from January 1999 to June 2016. CMT subtypes determined by clinical presentation and neurophysiologic studies. Mutation analysis of … Show more

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Cited by 2 publications
(2 citation statements)
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“…This proportion is consistent with previous reports on exome sequencing in pediatric IPN patients, with diagnostic yields ranging from 66.7% to 80.6% [9-11, 15, 25]. We observed a dominant prevalence of the axonal type of IPN in the children included in our study, in contrast to previous studies by Fridman et al, [25] Abe et al, [26] Hsu et al, [15] and other studies in children [9,11,15,27,28]. The most common genes identified in our study were MFN2, and NEFL, which differ from previous reports on pediatric CMT, where most patients had PMP22 duplication (Table S2).…”
Section: Discussionsupporting
confidence: 92%
“…This proportion is consistent with previous reports on exome sequencing in pediatric IPN patients, with diagnostic yields ranging from 66.7% to 80.6% [9-11, 15, 25]. We observed a dominant prevalence of the axonal type of IPN in the children included in our study, in contrast to previous studies by Fridman et al, [25] Abe et al, [26] Hsu et al, [15] and other studies in children [9,11,15,27,28]. The most common genes identified in our study were MFN2, and NEFL, which differ from previous reports on pediatric CMT, where most patients had PMP22 duplication (Table S2).…”
Section: Discussionsupporting
confidence: 92%
“…The clinical and genetic profiles are quite similar to that observed in previous studies, 6 18 19 that provide clear data on prominent occurrence of CMT1 demyelinated forms, much higher than that of CMT2 axonal, with an outstanding contribution of CMT1A, which are in contrast with the preponderance of axonal forms in childhood- and infancy-onset cases reported in Thailand. 20 CMT1A is the most common genetic subtype of CMT in both childhood- and adulthood-onset presentation. 21 The genetic basis detected in our study involves the same three most commons genes associated with demyelinating CMT in children ( PMP22 , GJB1 , and MPZ ), 6 disclosing also how uncommon are CMT4 cases in clinical practice.…”
Section: Discussionmentioning
confidence: 99%