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Inherited Neuropathy

MedGen UID:
108622
Concept ID:
C0598589
Disease or Syndrome

Definition

A hereditary disorder that affects the sensory and/or motor nerves or the autonomic nerves. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited Neuropathy

Professional guidelines

PubMed

Beloribi-Djefaflia S, Attarian S
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):35-48. Epub 2022 Dec 30 doi: 10.1016/j.neurol.2022.11.006. PMID: 36588067
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article

Recent clinical studies

Etiology

Beloribi-Djefaflia S, Attarian S
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):35-48. Epub 2022 Dec 30 doi: 10.1016/j.neurol.2022.11.006. PMID: 36588067
Masingue M, Fernández-Eulate G, Debs R, Tard C, Labeyrie C, Leonard-Louis S, Dhaenens CM, Masson MA, Latour P, Stojkovic T
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):10-29. Epub 2022 Dec 22 doi: 10.1016/j.neurol.2022.11.007. PMID: 36566124
McCray BA, Scherer SS
Neurotherapeutics 2021 Oct;18(4):2269-2285. Epub 2021 Oct 4 doi: 10.1007/s13311-021-01099-2. PMID: 34606075Free PMC Article
Pisciotta C, Shy ME
Handb Clin Neurol 2018;148:653-665. doi: 10.1016/B978-0-444-64076-5.00042-9. PMID: 29478606
Barreto LC, Oliveira FS, Nunes PS, de França Costa IM, Garcez CA, Goes GM, Neves EL, de Souza Siqueira Quintans J, de Souza Araújo AA
Neuroepidemiology 2016;46(3):157-65. Epub 2016 Feb 6 doi: 10.1159/000443706. PMID: 26849231

Diagnosis

Beloribi-Djefaflia S, Attarian S
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):35-48. Epub 2022 Dec 30 doi: 10.1016/j.neurol.2022.11.006. PMID: 36588067
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J
J Neurol Neurosurg Psychiatry 2022 May;93(5):530-538. Epub 2022 Feb 9 doi: 10.1136/jnnp-2021-328483. PMID: 35140138
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Morena J, Gupta A, Hoyle JC
Int J Mol Sci 2019 Jul 12;20(14) doi: 10.3390/ijms20143419. PMID: 31336816Free PMC Article
Barreto LC, Oliveira FS, Nunes PS, de França Costa IM, Garcez CA, Goes GM, Neves EL, de Souza Siqueira Quintans J, de Souza Araújo AA
Neuroepidemiology 2016;46(3):157-65. Epub 2016 Feb 6 doi: 10.1159/000443706. PMID: 26849231

Therapy

Fennessy JR, Cornett KMD, Burns J, Menezes MP
J Peripher Nerv Syst 2023 Sep;28(3):308-316. Epub 2023 Aug 24 doi: 10.1111/jns.12587. PMID: 37537696
Stavrou M, Sargiannidou I, Georgiou E, Kagiava A, Kleopa KA
Int J Mol Sci 2021 Jun 3;22(11) doi: 10.3390/ijms22116048. PMID: 34205075Free PMC Article
Morena J, Gupta A, Hoyle JC
Int J Mol Sci 2019 Jul 12;20(14) doi: 10.3390/ijms20143419. PMID: 31336816Free PMC Article
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O
Brain 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. PMID: 30476010Free PMC Article
Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network
Ann Neurol 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672. PMID: 23109143Free PMC Article

Prognosis

Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ
Muscle Nerve 2022 Oct;66(4):479-486. Epub 2022 Aug 11 doi: 10.1002/mus.27687. PMID: 35894586
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H
Neuromuscul Disord 2021 Feb;31(2):113-122. Epub 2020 Nov 30 doi: 10.1016/j.nmd.2020.11.013. PMID: 33386210
McMacken G, Whittaker RG, Charlton R, Barresi R, Lochmüller H, Horvath R
Eur J Neurol 2021 Jan;28(1):297-304. Epub 2020 Sep 26 doi: 10.1111/ene.14514. PMID: 32909314
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Tracy JA, Dyck PJ, Klein CJ, Engelstad JK, Meyer JE, Dyck PJB
Muscle Nerve 2019 Jun;59(6):665-670. Epub 2019 Mar 12 doi: 10.1002/mus.26452. PMID: 30810227

Clinical prediction guides

Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Tracy JA, Dyck PJ, Klein CJ, Engelstad JK, Meyer JE, Dyck PJB
Muscle Nerve 2019 Jun;59(6):665-670. Epub 2019 Mar 12 doi: 10.1002/mus.26452. PMID: 30810227
Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN
Muscle Nerve 2018 Mar;57(3):388-394. Epub 2017 Jul 21 doi: 10.1002/mus.25742. PMID: 28692128Free PMC Article
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW
J Neurol Neurosurg Psychiatry 2017 Nov;88(11):941-952. Epub 2017 Aug 31 doi: 10.1136/jnnp-2017-315721. PMID: 28860329Free PMC Article
Quasthoff S, Hartung HP
J Neurol 2002 Jan;249(1):9-17. doi: 10.1007/pl00007853. PMID: 11954874

Recent systematic reviews

Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294
Barreto LC, Oliveira FS, Nunes PS, de França Costa IM, Garcez CA, Goes GM, Neves EL, de Souza Siqueira Quintans J, de Souza Araújo AA
Neuroepidemiology 2016;46(3):157-65. Epub 2016 Feb 6 doi: 10.1159/000443706. PMID: 26849231

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