Pathological changes of the sural nerve in patients with familial episodic pain syndrome

Zheng, Yilei; Huang, Pengcheng; Li, Shumeng; Jiang, Kaiyan; Zhou, Binbin; Fang, Xin; Zhou, Mengting; Hong, Daojun; Zhu, Min

doi:10.1007/s10072-022-06107-7

Cited by 1 publication

(2 citation statements)

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“…Our study recently revealed that the long-term dysfunction of the Nav1.9 channel could cause the degeneration of unmyelinated fibers in FEPS3 patients with pain remission, indicating that the persistent dysfunction of VGSC channels could be the pathological basis of SFN. 41 Therefore, the dysfunction of ion channels will induce time-dependent neuropathological changes, which form a common basis of the clinical spectrum for various pain syndromes.…”

Section: Prospects and Challengesmentioning

confidence: 99%

“…Unlike FEPS1 and FEPS2, FEPS3 has been reported in over 20 families. [29][30][31][32][36][37][38][39][40][41] We summarized the literature and found that almost all FEPS3 cases came from large autosomal dominant inherited families, except for one sporadic case originating from her asymptomatic father. 32 The episodic pain syndrome with onset in infancy or early childhood is lengthdependent and primarily involves in the distal joints, including the knees and ankles, and sometimes moves up to wrists, elbows, and palms, and occasionally affects the proximal limbs and neck.…”

Section: Feps3mentioning

confidence: 99%

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Familial Episodic Pain Syndromes

Shen¹,

Zheng²,

Hong³

2022

JPR

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Over the past decades, advances in genetic sequencing have opened a new world of discovery of causative genes associated with numerous pain-related syndromes. Familial episodic pain syndromes (FEPS) are one of the distinctive syndromes characterized by early-childhood onset of severe episodic pain mainly affecting the distal extremities and tend to attenuate or diminish with age. According to the phenotypic and genetic properties, FEPS at least includes four subtypes of FEPS1, FEPS2, FEPS3, and FEPS4, which are caused by mutations in the TRPA1, SCN10A, SCN11A , and SCN9A genes, respectively. Functional studies have revealed that all missense mutations in these genes are closely associated with the gain-of-function of cation channels. Because some FEPS patients may show a relative treatability and favorable prognosis, it is worth paying attention to the diagnosis and management of FEPS as early as possible. In this review, we state the common clinical manifestations, pathogenic mechanisms, and potential therapies of the disease, and provide preliminary opinions about future research for FEPS.

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Section: Prospects and Challengesmentioning

confidence: 99%