A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
Abstract Background Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. Case presentation Here, we reported a Chinese family harb...
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BMC
2023-06-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-023-03260-0 |
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| author | Haofeng Chen Chong Sun Yongsheng Zheng Junxiong Yin Mingshi Gao Chongbo Zhao Jie Lin |
| author_facet | Haofeng Chen Chong Sun Yongsheng Zheng Junxiong Yin Mingshi Gao Chongbo Zhao Jie Lin |
| author_sort | Haofeng Chen |
| collection | DOAJ |
| description | Abstract Background Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. Case presentation Here, we reported a Chinese family harboring the same p.R316C variant, but with an overlap syndrome and different clinical manifestations. A 58-year-old man presented with severe scapula muscle atrophy, resulting in sloping shoulders. He also exhibited distinct muscle atrophy in his four limbs, particularly in the lower limbs. The sural nerve biopsy revealed severe loss of myelinated nerve fibers with scattered regenerating clusters and pseudo-onion bulbs. Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27-year-old son was born with clubfoot and clinodactyly. Electromyogram examination indicated chronic neurogenic changes and anterior horn cells involvement. Although there was no obvious weakness or sensory symptoms, early SPSMA could be considered for him. Conclusions A literature review of the clinical characteristics in CMT2C and SPSMA patients with TRPV4 mutation suggested that our case was distinct due to the overlap syndrome and phenotype variation. Altogether, this case broadened the phenotype spectrum and provided the nerve biopsy pathological details of TRPV4-related neuropathies. |
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| language | English |
| last_indexed | 2024-03-13T01:54:38Z |
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| spelling | doaj.art-9a0ed284f80c44989b40f520680974402023-07-02T11:19:12ZengBMCBMC Neurology1471-23772023-06-012311810.1186/s12883-023-03260-0A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature reviewHaofeng Chen0Chong Sun1Yongsheng Zheng2Junxiong Yin3Mingshi Gao4Chongbo Zhao5Jie Lin6Department of Neurology, Huashan Hospital, Fudan UniversityDepartment of Neurology, Huashan Hospital, Fudan UniversityDepartment of Neurology, Huashan Hospital, Fudan UniversityDepartment of Neurology, Huashan Hospital, Fudan UniversityDepartment of Pathology, Huashan Hospital, Fudan UniversityDepartment of Neurology, Huashan Hospital, Fudan UniversityDepartment of Neurology, Huashan Hospital, Fudan UniversityAbstract Background Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. Case presentation Here, we reported a Chinese family harboring the same p.R316C variant, but with an overlap syndrome and different clinical manifestations. A 58-year-old man presented with severe scapula muscle atrophy, resulting in sloping shoulders. He also exhibited distinct muscle atrophy in his four limbs, particularly in the lower limbs. The sural nerve biopsy revealed severe loss of myelinated nerve fibers with scattered regenerating clusters and pseudo-onion bulbs. Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27-year-old son was born with clubfoot and clinodactyly. Electromyogram examination indicated chronic neurogenic changes and anterior horn cells involvement. Although there was no obvious weakness or sensory symptoms, early SPSMA could be considered for him. Conclusions A literature review of the clinical characteristics in CMT2C and SPSMA patients with TRPV4 mutation suggested that our case was distinct due to the overlap syndrome and phenotype variation. Altogether, this case broadened the phenotype spectrum and provided the nerve biopsy pathological details of TRPV4-related neuropathies.https://doi.org/10.1186/s12883-023-03260-0CMT2Cp.R316C mutationSPSMASural nerve biopsyTRPV4 |
| spellingShingle | Haofeng Chen Chong Sun Yongsheng Zheng Junxiong Yin Mingshi Gao Chongbo Zhao Jie Lin A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review BMC Neurology CMT2C p.R316C mutation SPSMA Sural nerve biopsy TRPV4 |
| title | A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review |
| title_full | A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review |
| title_fullStr | A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review |
| title_full_unstemmed | A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review |
| title_short | A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review |
| title_sort | trpv4 mutation caused charcot marie tooth disease type 2c with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family a case report and literature review |
| topic | CMT2C p.R316C mutation SPSMA Sural nerve biopsy TRPV4 |
| url | https://doi.org/10.1186/s12883-023-03260-0 |
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