Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

Wu, Rui; Lv, He; Zhang, Wei; Wang, Zhaoxia; Zuo, Yuehuan; Liu, Jing; Yuan, Yun

doi:10.1155/2017/6481367

Cited by 6 publications

(7 citation statements)

References 19 publications

(27 reference statements)

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“…Some literature reviews and studies conducted on European and American CMT patients reveal the onset age of CMT1A is most frequently in the first decade of life . A Chinese study performed by Wu et al demonstrated an average onset age was 22.2 ± 14.5 years (ranged from 1 to 55 years) . A Japanese study showed half of the patients with CMT1A presented an age at onset after 20 years old .…”

Section: Discussionmentioning

confidence: 99%

“…The proportion of ICMT was remarkable higher than the several previous studies, such as 2.4% in a Norwegian study 37 and 6.5% in a French study. 38 42 A Japanese study showed half of the patients with CMT1A presented an age at onset after 20 years old. 25 In our study, the median age of onset in CMT1A patients was 32.5 years old, which may indicate patients with PMP22 duplication in southeast China have milder symptoms.…”

Section: Discussionmentioning

confidence: 99%

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Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

et al. 2019

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Charcot‐Marie‐Tooth (CMT) disease is a heterogeneous group of inherited sensorimotor neuropathies. To clarify the genetic spectrum and clinical profiles in Chinese CMT patients, we enrolled 150 unrelated CMT patients from southeast China. We performed multiplex ligation‐dependent probe amplification (MLPA) testing in all patients and next‐generation sequencing (NGS) among those patients without PMP22 rearrangements. We identified PMP22 duplications in 40 patients and deletions in 12 patients. In addition, we found 19 novel variants and 36 known mutations in 57 patients. Among these 55 variants, 45 pathogenic or likely pathogenic variants were identified in 48 cases, and 10 variants with uncertain significance were identified in 9 cases. Therefore, we obtained a genetic diagnosis in 63.8% (88/138) of CMT patients and 66.7% (100/150) of all included patients. PMP22, GJB1, and MFN2 are the most common causative genes in CMT1 (demyelinated form), intermediate CMT, and CMT2 (axonal form), respectively. In this study, we identified a higher proportion of intermediate CMT, a relatively high frequency of NDRG1 mutations and clinical features of later onset age in CMT1A patients. Our results broaden the genetic and clinical spectrum of CMT patients, which can help optimize the genetic and clinical diagnosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

et al. 2019

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“…Duplication of the PMP22 gene most commonly causes demyelinating Charcot‐Marie‐Tooth disease type 1A (CMT1A), which accounts for 20–64% of all patients with CMT. Patients usually present with slowly progressive length‐dependent neuropathy with pes cavus . Deletion of PMP22 causes hereditary neuropathy with liability to pressure palsies (HNPP).…”

Section: Introductionmentioning

confidence: 99%

Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy

Jun

Meng

et al. 2019

Neuropathology

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Congenital hypomyelinating neuropathy (CHN) presents in the neonatal period and results in delayed development of sensory and motor functions due to several gene mutations including in EGR2, MPZ, CNTNAP1, and PMP22. The phenotype of homozygous splice-site mutation in the PMP22 gene has not been described in humans or animal models. Here we describe a family carrying a pathogenic splice-site c.78 + 5G>A mutation in the PMP22 gene. We evaluated the clinical, electrophysiological, histological, and genetic features of the family. The proband with homozygous mutation presented with CHN, while his consanguineous parents with heterozygous mutation were asymptomatic. The proband was a 7-year-old boy. He had motor retardation after birth and had remained unable to walk independently at the time of the study. The compound muscle action potentials and sensory nerve action potentials were not recordable in the boy. The motor and sensory nerve conduction velocities of the parents were slightly to moderately decreased, although they had no symptoms of peripheral neuropathy. The sural nerve biopsy of the boy revealed hypomyelinating neuropathy with absence of large myelinated fibers, no myelin breakdown products, and numerous basal lamina onion bulb formations. To our knowledge, this is the first report of a homozygous splice-site mutation in the PMP22 gene in humans. Our study expands the phenotype and genotype of PMP22-related neuropathy.

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“…О.О. Богомольця НАН України, Київ; e-mail: tsupykov@gmail.com 3 ННЦ «Інститут біології та медицини» Київського національного університету імені Тараса Шевченка; 4 ДУ «Інститут генетичної та регенеративної медицини Національної академії медичних наук України», Київ; 5 ДУ «Інститут геронтології ім. Д. Ф. Чеботарьова Національної академії медичних наук України», Київ У роботі досліджували демієлінізацію у трансгенних мишей з периферичною нейропатією та вплив трансплантації мультипотентних мезенхімальних стромальних клітин (ММСК) жирової тканини на ультраструктурні особливості сідничого нерва цих мишей.…”

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Ultrastructural Analysis of Sciatic Nerve in Mice With Peripheral Neuropathy After Transplantation of Adipose-Derived Multipotent Mesenchymal Stromal Cells

Govbakh¹,

Smozhanik²,

Patseva³

et al. 2021

Fiziol Zh

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We investigated the peripheral demyelination in transgenic mice with peripheral neuropathy and the effect of adiposederived multipotent mesenchymal stromal cells (ADSCs) transplantation on the ultrastructural features of the sciatic nerve in these mice. The B6.Cg-Tg(PMP22)C3Fbas/J transgenic mice with peripheral neuropathy were injected intramuscularly with ADSCs, which were isolated from the adipose tissue of FVB-Cg-Tg(GFPU) mice transgenic by GFP. For ultrastructural analysis, tissue fixation in animals was performed by transcardiac perfusion-fixation with 4% formaldehyde solution and 2.5% glutaraldehyde solution 16 weeks after transplantation. Electron microscopic examination of fibers of the sciatic nerve in the transgenic mice with peripheral neuropathy showed that many axons in this nerve were subjected to dys- and demyelination; the so-called onion bulb-like structures were observed. In some fibers, hypertrophy of myelin sheaths was found. In general, ultrastructural modifications in the sciatic nerve of the transgenic mice were rather similar to the pathomorphological pattern observed in patients with peripheral neuropathy. At 16 weeks after ADSC transplantation, in the sciatic nerve in mice with peripheral neuropathy thickening of the myelin sheath and increasing of the number of lamellae were observed. Thus, ADSC transplantation in mice with hereditary peripheral neuropathy has a protective effect on the ultrastructural features of the sciatic nerve and inhibits the process of axon demyelination.

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Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

Cited by 6 publications

References 19 publications

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy

Ultrastructural Analysis of Sciatic Nerve in Mice With Peripheral Neuropathy After Transplantation of Adipose-Derived Multipotent Mesenchymal Stromal Cells

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