Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2

Du, Kang; Meng, Lingchao; Lv, He; Zhang, Wei; Wang, Zhaoxia; Yuan, Yun

doi:10.5414/np301323

Cited by 2 publications

(4 citation statements)

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Section: Discussionmentioning

confidence: 94%

“…Since axonal neuropathy is closely associated with dysfunctions of cytoskeleton in axonal transport, it is unsurprised that lots of cytoskeleton‐related genes have involved in the pathogenesis of dHMN. 26 In this study, four dHMN patients were identified with disease‐causative variants in the DYNC1H1 , DNM2 , BICD2 , and NEFH genes, and accounted for 12.1% of patients with genetic diagnosis. Although the cytoskeleton‐related genes were hot‐spot candidates for dHMN in different ethnic populations, the specific genes and mutational types had great genetic heterogeneities, as in our patient cohort.…”

Section: Discussionmentioning

confidence: 98%

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Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

Xiang

Chen

et al. 2022

Ann Clin Transl Neurol

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Background Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of NOTCH2NLC has been associated with dHMN. Accordingly, short tandem repeat (STR) should be further explored in genetically unsolved patients with dHMN. Methods A total of 128 patients from 90 unrelated families were clinically diagnosed as dHMN, and underwent a comprehensively genetic screening. Skin biopsies were conducted with routine protocols. Results Most patients showed chronic distal weakness of lower limbs (121/128), while 20 patients initially had asymmetrical involvements, 14 had subclinical sensory abnormalities, 11 had pyramidal impairments, five had cerebellar disturbance, and four had hyperCKmia. The rate of genetic detection was achieved in 36.7% (33/90), and the rate increased to 46.7% (42/90) if patients with variants uncertain significance were included. The most common causative genes included chaperone‐related genes (8/33, 24.2%), tRNA synthetase genes (4/33, 12.1%), and cytoskeleton‐related genes (4/33, 12.1%). Additionally, two dominant inherited families were attributed to abnormal expansion of GGC repeats in the 5‘UTR of NOTCH2NLC; and a patient with dHMN and cerebellar symptoms had CAG repeat expansion in the ATXN2 gene. Skin biopsy from patients with GGC expansion in NOTCH2NLC revealed typical intranuclear inclusions on histological and ultrastructural examinations. Interpretations This study further extends the genetic heterogeneity of dHMN. Given some dHMN patients may be associated with nucleotides repeat expansion, STR screening is necessary to perform in genetically unsolved patients.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 98%

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

Xiang

Chen

et al. 2022

Ann Clin Transl Neurol

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“…Sural nerve biopsies were performed as described previously 19 . The morphometric indices were assessed in toluidine blue‐stained semithin sections.…”

Section: Methodsmentioning

confidence: 99%

“…Sural nerve biopsies were performed as described previously. 19 The morphometric indices were assessed in toluidine blue‐stained semithin sections. Given the variability of different nerve fascicles in each case, we manually counted the total number of myelinated nerve fibers (MF) from at least three fascicles on complete transverse sections of sural nerves on light microscopic images, captured at a magnification of 400× covering the maximum nerve area, in order to evaluate the extent of MF loss in each case objectively.…”

Section: Methodsmentioning

confidence: 99%

Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics

Chu

Tang

et al. 2022

Ann Clin Transl Neurol

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Objective The present study was intended to analyze the characteristics of myelinated nerve fibers density (MFD) of transthyretin amyloid polyneuropathy (ATTR‐PN) and other similar neuropathies. Methods A total of 41 patients with ATTR‐PN, 58 patients of other common peripheral neuropathies, and 17 age‐and gender‐matched controls who visited the First Hospital of Peking University and performed sural nerve biopsy between June 2007 and August 2021 were included for analysis of MFD. Results Except the vasculitic neuropathy group, the total and small MFD of patients in the ATTR‐PN group were significantly lower than those of other disease groups. There was an obvious negative correlation between the total MFD and the disease course in the ATTR‐PN group. The disease course of early‐onset and late‐onset symptoms was similar, but the loss of large myelinated nerve fibers (MF) was more severe for the latter. In addition, all late‐onset and most early‐onset patients had severely reduced MFD after a 2 years' disease course. The MFD in ATTR‐PN patients was negatively correlated with Neuropathy Impairment Score (NIS) and Norfolk Quality of life‐diabetic neuropathy (Norfolk QOL‐DN) score. Conclusion MF is lost differently in ATTR‐PN and in other common peripheral neuropathies. The late‐onset and early‐onset ATTR‐PN patients have different patterns of loss of large and small MF.

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Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2

Cited by 2 publications

References 0 publications

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics

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