Background: Trigeminal neuralgia (TN) is one of the most common clinical cranial nerve disorders. Typical TN is characterized by paroxysmal severe pain, which can be described as electric shock-like, needle-prick-like, or tearing-like. Each episode lasts from several seconds to several minutes, seriously impairing patients' quality of life, work ability, and social interaction skills. A family with 2 or more patients suffering from trigeminal neuralgia is defined as a familial trigeminal neuralgia (FTN，Familial trigeminal neuralgia) family. Currently, research on FTN remains relatively scarce. Objective: To enhance clinicians' understanding of the relationship between trigeminal neuralgia and genetics, facilitate early screening and identification of suspected FTN patients, provide insights into the pathogenesis of FTN, and offer references for the treatment and prognosis of affected patients. Methods: Whole-genome sequencing and Sanger sequencing of the single locus in the myelin protein zero (MPZ) gene were performed on 5 members of a TN family (including 3 TN patients and 4 individuals with scoliosis and pes cavus). Results: All 4 tested family members carried a heterozygous mutation at the c.308G>A (p.Gly103Glu) locus, which was inherited from the proband's mother. Sanger sequencing of the single MPZ locus in the proband's father showed no variation. The 3 TN patients underwent treatments such as microvascular decompression of the trigeminal nerve or percutaneous balloon compression of the trigeminal ganglion, with favorable postoperative outcomes and no pain recurrence. Conclusion: Through whole-genome sequencing and literature review, our team identified a novel variant-MPZ c.308G>A (p.Gly103Glu)-that is associated with FTN, a rarely reported phenotype. Additionally, members of this family exhibited clinical manifestations of Charcot-Marie-Tooth disease (CMT), such as scoliosis and pes cavus.
| Published in | International Journal of Pain Research (Volume 1, Issue 4) |
| DOI | 10.11648/j.ijpr.20250104.19 |
| Page(s) | 188-194 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2025. Published by Science Publishing Group |
Trigeminal Neuralgia, Familial, Myelin Protein Zero, Charcot-Marie-Tooth Disease
| [1] | Pollack IF, Jannetta PJ, Bissonette DJ. Bilateral trigeminal neuralgia: a 14-year experience with microvascular decompression [J]. J Neurosurg, 1988, 68(4): 559-565. |
| [2] | Fleetwood IG, Innes AM, Hansen SR, et al. Familial trigeminal neuralgia. Case report and review of the literature [J]. J Neurosurg, 2001, 95(3): 513-517. |
| [3] | Love S, Coakham HB. Trigeminal neuralgia: pathology and pathogenesis [J]. Brain, 2001, 124: 2347-2360. |
| [4] | Eide PK. Familial occurrence of classical and idiopathic trigeminal neuralgia [J]. J Neurol Sci, 2022, 434: 120101. |
| [5] | Ashina S, Robertson CE, Srikiatkhachorn A, et al. Trigeminal neuralgia [J]. Nat Rev Dis Primers, 2024, 10(1): 39. |
| [6] | Mannerak MA, Lashkarivand A, Eide PK. Trigeminal neuralgia and genetics: a systematic review [J]. Mol Pain, 2021, 17: 17448069211016139. |
| [7] | Méreaux JL, Lefaucheur R, Hebant B, et al. Trigeminal neuralgia and Charcot-Marie-Tooth disease: an intriguing association. Lessons from a large family case report and review of literature [J]. Headache, 2019, 59(7): 1074-1079. |
| [8] | Caress JB, Lewis JA, Pinyan CW, et al. A Charcot-Marie-Tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia [J]. Muscle Nerve, 2019, 60(1): 62-66. |
| [9] | Chen B, Zhang Z, Chen N, et al. Two novel myelin protein zero mutations in a group of Chinese patients [J]. Front Neurol, 2021, 12: 734515. |
| [10] | Raasakka A, Kursula P. How does protein zero assemble compact myelin? [J]. Cells, 2020, 9(8): 1832. |
| [11] | Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZmutations [J]. Brain, 2004, 127(Pt 2): 371-384. |
| [12] | Fabrizi GM, Tamburin S, Cavallaro T, et al. The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: an electrodiagnostic, nerve ultrasound and histological study [J]. Clin Neurophysiol, 2018, 129(1): 21-32. |
| [13] | Wang A, Song Z, Zhang X, et al. MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response [J]. J Headache Pain, 2023, 24(1): 4. |
| [14] | Bai Y, Wu X, Brennan KM, et al. Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B [J]. Ann Clin Transl Neurol, 2018, 5(4): 445-455. |
| [15] | Das I, Krzyzosiak A, Schneider K, et al. Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit [J]. Science, 2015, 348(6231): 239-242. |
APA Style
Diyuan, W., Chengwei, X., Naikang, G., Xuhua, Y., Baoyan, H., et al. (2025). Trigeminal Neuralgia in MPZ Gene-related Families: A Family Report and Literature Review. International Journal of Pain Research, 1(4), 188-194. https://doi.org/10.11648/j.ijpr.20250104.19
ACS Style
Diyuan, W.; Chengwei, X.; Naikang, G.; Xuhua, Y.; Baoyan, H., et al. Trigeminal Neuralgia in MPZ Gene-related Families: A Family Report and Literature Review. . 2025, 1(4), 188-194. doi: 10.11648/j.ijpr.20250104.19
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.ijpr.20250104.19,
author = {Wang Diyuan and Xu Chengwei and Gao Naikang and Yin Xuhua and He Baoyan and Ren Junhao},
title = {Trigeminal Neuralgia in MPZ Gene-related Families:
A Family Report and Literature Review},
journal = {International Journal of Pain Research},
volume = {1},
number = {4},
pages = {188-194},
doi = {10.11648/j.ijpr.20250104.19},
url = {https://doi.org/10.11648/j.ijpr.20250104.19},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijpr.20250104.19},
abstract = {Background: Trigeminal neuralgia (TN) is one of the most common clinical cranial nerve disorders. Typical TN is characterized by paroxysmal severe pain, which can be described as electric shock-like, needle-prick-like, or tearing-like. Each episode lasts from several seconds to several minutes, seriously impairing patients' quality of life, work ability, and social interaction skills. A family with 2 or more patients suffering from trigeminal neuralgia is defined as a familial trigeminal neuralgia (FTN，Familial trigeminal neuralgia) family. Currently, research on FTN remains relatively scarce. Objective: To enhance clinicians' understanding of the relationship between trigeminal neuralgia and genetics, facilitate early screening and identification of suspected FTN patients, provide insights into the pathogenesis of FTN, and offer references for the treatment and prognosis of affected patients. Methods: Whole-genome sequencing and Sanger sequencing of the single locus in the myelin protein zero (MPZ) gene were performed on 5 members of a TN family (including 3 TN patients and 4 individuals with scoliosis and pes cavus). Results: All 4 tested family members carried a heterozygous mutation at the c.308G>A (p.Gly103Glu) locus, which was inherited from the proband's mother. Sanger sequencing of the single MPZ locus in the proband's father showed no variation. The 3 TN patients underwent treatments such as microvascular decompression of the trigeminal nerve or percutaneous balloon compression of the trigeminal ganglion, with favorable postoperative outcomes and no pain recurrence. Conclusion: Through whole-genome sequencing and literature review, our team identified a novel variant-MPZ c.308G>A (p.Gly103Glu)-that is associated with FTN, a rarely reported phenotype. Additionally, members of this family exhibited clinical manifestations of Charcot-Marie-Tooth disease (CMT), such as scoliosis and pes cavus.},
year = {2025}
}
TY - JOUR T1 - Trigeminal Neuralgia in MPZ Gene-related Families: A Family Report and Literature Review AU - Wang Diyuan AU - Xu Chengwei AU - Gao Naikang AU - Yin Xuhua AU - He Baoyan AU - Ren Junhao Y1 - 2025/12/20 PY - 2025 N1 - https://doi.org/10.11648/j.ijpr.20250104.19 DO - 10.11648/j.ijpr.20250104.19 T2 - International Journal of Pain Research JF - International Journal of Pain Research JO - International Journal of Pain Research SP - 188 EP - 194 PB - Science Publishing Group SN - 3070-1562 UR - https://doi.org/10.11648/j.ijpr.20250104.19 AB - Background: Trigeminal neuralgia (TN) is one of the most common clinical cranial nerve disorders. Typical TN is characterized by paroxysmal severe pain, which can be described as electric shock-like, needle-prick-like, or tearing-like. Each episode lasts from several seconds to several minutes, seriously impairing patients' quality of life, work ability, and social interaction skills. A family with 2 or more patients suffering from trigeminal neuralgia is defined as a familial trigeminal neuralgia (FTN，Familial trigeminal neuralgia) family. Currently, research on FTN remains relatively scarce. Objective: To enhance clinicians' understanding of the relationship between trigeminal neuralgia and genetics, facilitate early screening and identification of suspected FTN patients, provide insights into the pathogenesis of FTN, and offer references for the treatment and prognosis of affected patients. Methods: Whole-genome sequencing and Sanger sequencing of the single locus in the myelin protein zero (MPZ) gene were performed on 5 members of a TN family (including 3 TN patients and 4 individuals with scoliosis and pes cavus). Results: All 4 tested family members carried a heterozygous mutation at the c.308G>A (p.Gly103Glu) locus, which was inherited from the proband's mother. Sanger sequencing of the single MPZ locus in the proband's father showed no variation. The 3 TN patients underwent treatments such as microvascular decompression of the trigeminal nerve or percutaneous balloon compression of the trigeminal ganglion, with favorable postoperative outcomes and no pain recurrence. Conclusion: Through whole-genome sequencing and literature review, our team identified a novel variant-MPZ c.308G>A (p.Gly103Glu)-that is associated with FTN, a rarely reported phenotype. Additionally, members of this family exhibited clinical manifestations of Charcot-Marie-Tooth disease (CMT), such as scoliosis and pes cavus. VL - 1 IS - 4 ER -
Department of Neurology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
Department of Neurosurgery, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China
Information