U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary peripheral neuropathy

MedGen UID:
1825937
Concept ID:
C5681733
Disease or Syndrome
Synonym: Genetic peripheral neuropathy
 
Monarch Initiative: MONDO:0020127
Orphanet: ORPHA98497

Definition

An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S
Eur J Neurol 2025 Jan;32(1):e16523. Epub 2024 Nov 21 doi: 10.1111/ene.16523. PMID: 39569692Free PMC Article
Oh SJ, Kim H, Park SE, Kim JH, Kim YJ, Choi SJ, Oh SY, Jeon HB, Chang JW
Neurobiol Dis 2024 Dec;203:106725. Epub 2024 Nov 12 doi: 10.1016/j.nbd.2024.106725. PMID: 39536952
Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, Attarian S
Eur J Neurol 2021 Sep;28(9):2913-2921. Epub 2021 Jun 29 doi: 10.1111/ene.14948. PMID: 34060176

Recent clinical studies

Etiology

Yum Y, Park S, Nam YH, Yoon J, Song H, Kim HJ, Lim J, Jung SC
Tissue Eng Regen Med 2024 Jul;21(5):761-776. Epub 2024 Apr 15 doi: 10.1007/s13770-024-00638-0. PMID: 38619758Free PMC Article
Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group, Herrmann DN, Burns J
Neurology 2024 Feb 13;102(3):e207963. Epub 2024 Jan 18 doi: 10.1212/WNL.0000000000207963. PMID: 38237108Free PMC Article
Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H
J Neurol 2022 Aug;269(8):4129-4140. Epub 2022 Mar 2 doi: 10.1007/s00415-022-11026-w. PMID: 35235001Free PMC Article
Ghosh S, Tourtellotte WG
Annu Rev Pathol 2021 Jan 24;16:487-509. doi: 10.1146/annurev-pathol-030320-100822. PMID: 33497257
Piazza S, Ricci G, Caldarazzo Ienco E, Carlesi C, Volpi L, Siciliano G, Mancuso M
J Orthop Traumatol 2010 Dec;11(4):195-201. Epub 2010 Oct 21 doi: 10.1007/s10195-010-0114-y. PMID: 20963465Free PMC Article

Diagnosis

Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group, Herrmann DN, Burns J
Neurology 2024 Feb 13;102(3):e207963. Epub 2024 Jan 18 doi: 10.1212/WNL.0000000000207963. PMID: 38237108Free PMC Article
Kim HJ, Kim SB, Kim HS, Kwon HM, Park JH, Lee AJ, Lim SO, Nam SH, Hong YB, Chung KW, Choi BO
Mol Genet Genomic Med 2022 Feb;10(2):e1870. Epub 2022 Jan 19 doi: 10.1002/mgg3.1870. PMID: 35044100Free PMC Article
Ghosh S, Tourtellotte WG
Annu Rev Pathol 2021 Jan 24;16:487-509. doi: 10.1146/annurev-pathol-030320-100822. PMID: 33497257
Yang Q, Xiao X, Yuan Z, Jiao B, Liao X, Du J
J Clin Neurosci 2020 Mar;73:311-313. Epub 2020 Jan 24 doi: 10.1016/j.jocn.2020.01.029. PMID: 31987637
McGrath MC
Clin Anat 2016 Jul;29(5):547-54. Epub 2015 Nov 23 doi: 10.1002/ca.22653. PMID: 26457477

Therapy

Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S
Eur J Neurol 2025 Jan;32(1):e16523. Epub 2024 Nov 21 doi: 10.1111/ene.16523. PMID: 39569692Free PMC Article
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S
Eur J Neurol 2023 Oct;30(10):3265-3276. Epub 2023 Jul 5 doi: 10.1111/ene.15937. PMID: 37335503
Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, Attarian S
Eur J Neurol 2021 Sep;28(9):2913-2921. Epub 2021 Jun 29 doi: 10.1111/ene.14948. PMID: 34060176
Ellis DE, Hubbard RA, Willis AW, Zuppa AF, Zaoutis TE, Hennessy S
Pharmacoepidemiol Drug Saf 2021 Jun;30(6):797-805. Epub 2021 Mar 23 doi: 10.1002/pds.5219. PMID: 33655544Free PMC Article
Ohshita N, Oka S, Tsuji K, Yoshida H, Morita S, Momota Y, Tsutsumi YM
Anesth Prog 2016 Summer;63(2):80-3. doi: 10.2344/15-00010R1.1. PMID: 27269665Free PMC Article

Prognosis

Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S
Eur J Neurol 2025 Jan;32(1):e16523. Epub 2024 Nov 21 doi: 10.1111/ene.16523. PMID: 39569692Free PMC Article
Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW
Genes (Basel) 2024 Apr 11;15(4) doi: 10.3390/genes15040485. PMID: 38674419Free PMC Article
Smith AST, Kim JH, Chun C, Gharai A, Moon HW, Kim EY, Nam SH, Ha N, Song JY, Chung KW, Doo HM, Hesson J, Mathieu J, Bothwell M, Choi BO, Kim DH
Adv Biol (Weinh) 2022 Feb;6(2):e2101308. Epub 2021 Dec 26 doi: 10.1002/adbi.202101308. PMID: 34958183Free PMC Article
Sy A, Cheng J, Cooper R, Mueller L
J Pediatr Hematol Oncol 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. PMID: 29877907
Houlden H, Reilly MM, Smith S
Eye (Lond) 2009 Apr;23(4):966-74. Epub 2008 Jul 18 doi: 10.1038/eye.2008.221. PMID: 18636082

Clinical prediction guides

Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group, Herrmann DN, Burns J
Neurology 2024 Feb 13;102(3):e207963. Epub 2024 Jan 18 doi: 10.1212/WNL.0000000000207963. PMID: 38237108Free PMC Article
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S
Eur J Neurol 2023 Oct;30(10):3265-3276. Epub 2023 Jul 5 doi: 10.1111/ene.15937. PMID: 37335503
Smith AST, Kim JH, Chun C, Gharai A, Moon HW, Kim EY, Nam SH, Ha N, Song JY, Chung KW, Doo HM, Hesson J, Mathieu J, Bothwell M, Choi BO, Kim DH
Adv Biol (Weinh) 2022 Feb;6(2):e2101308. Epub 2021 Dec 26 doi: 10.1002/adbi.202101308. PMID: 34958183Free PMC Article
Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, Attarian S
Eur J Neurol 2021 Sep;28(9):2913-2921. Epub 2021 Jun 29 doi: 10.1111/ene.14948. PMID: 34060176
Ellis DE, Hubbard RA, Willis AW, Zuppa AF, Zaoutis TE, Hennessy S
Pharmacoepidemiol Drug Saf 2021 Jun;30(6):797-805. Epub 2021 Mar 23 doi: 10.1002/pds.5219. PMID: 33655544Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...