Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

Maeda, Kengo; Yamamoto, Yutaka; Ohuchi, Masatsugu; Sakashita, Takuto; Shiohara, Masanori; Namura, Tomo; Shintaku, Masayuki; Matsuura, Eiji; Takashima, Hiroshi

doi:10.1016/j.ensci.2021.100358

Cited by 3 publications

(6 citation statements)

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“…Elevated protein levels in cerebrospinal fluid have been reported ( 19 ). In one autopsy case, enlarged spinal nerve roots and demyelination of the phrenic, recurrent laryngeal, and oculomotor nerves were found ( 20 , 21 ). Biopsy usually shows demyelination, classic onion bulbs, or sometimes the formation of basal lamina onion bulbs, tomacula, and myelin folding ( 18 ).…”

Section: Resultsmentioning

confidence: 99%

“…This may partially explain the ophthalmic symptoms, such as myopia and cataracts, observed in CMT4F. Cranial nerve demyelination was confirmed by pathology (20). The involvement of the phrenic and recurrent laryngeal nerves in CMT4F needs more attention because respiratory problems are sometimes fatal (20).…”

Section: Discussionmentioning

confidence: 96%

“…A few patients may have late onset ( 22 ) or rapid onset ( 14 ). Newly recognized manifestations include auditory problems ( 12 , 14 , 15 ), ophthalmic problems ( 12 ), dysarthria ( 12 , 23 ), hoarseness ( 22 ), vocal cord palsy ( 20 ), respiratory problems ( 12 , 20 ), and involvement of the CNS ( 16 , 23 , 34 – 37 ). Abnormal BAEPs are common in CMT cases.…”

Section: Discussionmentioning

confidence: 99%

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Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

Liu

Duan

2023

Front. Neurol.

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BackgroundPeriaxins (encoded by PRX) play an important role in the stabilization of peripheral nerve myelin. Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F (CMT4F).MethodsIn this study, we screened for PRX mutations using next-generation sequencing and whole-exome sequencing in a large Chinese CMT cohort consisting of 465 unrelated index patients and 650 healthy controls. Sanger sequencing was used for the validation of all identified variants. We also reviewed all previously reported PRX-related CMT cases and summarized the clinical manifestations and genetic features of PRX-related CMTs.ResultsThe hit rate for biallelic PRX variants in our cohort of Chinese CMT patients was 0.43% (2/465). One patient carried a previously unreported splice-site mutation (c.25_27 + 9del) compound heterozygous with a known nonsense variant. Compiling data on CMT4F cases and PRX variants from the medical literature confirmed that early-onset (95.2%), distal amyotrophy or weakness (94.0%), feet deformity (75.0%), sensory impairment or sensory ataxia (65.5%), delayed motor milestones (60.7%), and spinal deformity (59.5%) are typical features for CMT4F. Less frequent features were auditory impairments, respiratory symptoms, late onset, dysarthria or hoarseness, ophthalmic problems, and central nervous system involvement. The two cases with biallelic missense mutations have later onset age than those with nonsense or frameshift mutations. We did not note clear correlations between the type and site of mutations and clinical severity or distinct constellations of symptoms.ConclusionConsistent with observations in other countries and ethnic groups, PRX-related CMT is rare in China. The clinical spectrum is wider than previously anticipated.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

Liu

Duan

2023

Front. Neurol.

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“…This alternative mechanism suggests that IVCP patients exhibit relatively minor denervation alterations in the affected RLN and a higher likelihood of spontaneous recovery compared to those with iatrogenic vocal fold paralysis 14 . It is worth noting that the diminished amplitude of the laryngeal nerve is linked to axonal damage, while prolonged latency is associated with demyelinating nervous changes, and it is hypothesized that there may be similar serous axon damages and demyelinating nervous changes in the left and right RLN fibers in patients with IVCP 15 . This speculation is based on the observation that the latencies and amplitudes of the paralyzed RLN were nearly identical.…”

Section: Discussionmentioning

confidence: 99%

“… 14 It is worth noting that the diminished amplitude of the laryngeal nerve is linked to axonal damage, while prolonged latency is associated with demyelinating nervous changes, and it is hypothesized that there may be similar serous axon damages and demyelinating nervous changes in the left and right RLN fibers in patients with IVCP. 15 This speculation is based on the observation that the latencies and amplitudes of the paralyzed RLN were nearly identical. Kollech et al discovered a higher presence of epineurium in distal segments (neck region) compared to proximal segments (thorax region) in both the left and right RLN.…”

Section: Discussionmentioning

confidence: 99%

A comparative analysis of laryngeal nerve damage in patients with idiopathic vocal cord paralysis exhibiting different paralytic sides

Liu,

Yan,

et al. 2024

Laryngoscope Investig Oto

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ObjectiveTo assess the extent of recurrent laryngeal nerve (RLN) and superior laryngeal nerve (SLN) damage in patients with idiopathic vocal cord paralysis (IVCP) exhibiting different paralytic sides.MethodsA total of 84 IVCP cases were evaluated using stroboscopic laryngoscopy, voice analysis, and laryngeal electromyography (LEMG). The results were compared between patients with left‐sided paralysis and right‐sided paralysis based on different disease courses (less than or more than 3 months).ResultsInitially, the average age and disease progression of IVCP patients were found to be similar regardless of the side of paralysis (p > .05). Additionally, there were no significant variations in voice indicators, such as MPT, DSI, and VHI, between IVCP patients with left and right vocal cord paralysis (p > .05). Furthermore, no disparities were detected in the latencies and amplitudes of the paralyzed RLN and SLN, as well as the durations and amplitudes of the action potentials in the paralyzed TM and PCM, among IVCP patients with left and right vocal cord paralysis (p > .05). Notably, the amplitudes of the left paralytic CM were significantly lower than those of the right paralytic CM (0.45 vs. 0.53, Z = −2.013, p = .044). In addition, no disparities were observed in APDs and amplitudes between the ipsilateral PCM and TM, either for patients with left or right vocal fold paralysis (p > .05). Finally, all the IVCP patients were subdivided into two subgroups according to different disease course (less than or more than 3 months), and in each subgroup, the comparison of voice indicators and LEMG results in IVCP patients with left or right vocal fold paralysis were similar with the above findings (p > .05).ConclusionOverall, the degree of RLN and SLN damage appeared to be similar in IVCP patients with left and right vocal cord paralysis, provided that the disease course was comparable.Level of Evidence4.

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Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations

Brooks

Porter

Bisordi

et al. 2022

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

Cited by 3 publications

References 7 publications

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

A comparative analysis of laryngeal nerve damage in patients with idiopathic vocal cord paralysis exhibiting different paralytic sides

Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations

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