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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

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

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
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
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: 33655544
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

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
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: 33655544
Ghosh S, Tourtellotte WG
Annu Rev Pathol 2021 Jan 24;16:487-509. doi: 10.1146/annurev-pathol-030320-100822. PMID: 33497257
Pantera H, Moran JJ, Hung HA, Pak E, Dutra A, Svaren J
Hum Mol Genet 2018 Aug 15;27(16):2830-2839. doi: 10.1093/hmg/ddy191. PMID: 29771329Free PMC Article
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, 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: 33655544
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
Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, Attolini L, Yaici S, Tanesse D, Fontes M, Pouget J, Blin O
Lancet Neurol 2009 Dec;8(12):1103-10. Epub 2009 Oct 7 doi: 10.1016/S1474-4422(09)70260-1. PMID: 19818690

Prognosis

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

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: 33655544
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

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