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Autosomal dominant hereditary demyelinating motor and sensory neuropathy

MedGen UID:
1842396
Concept ID:
C5680673
Disease or Syndrome
Orphanet: ORPHA140453

Professional guidelines

PubMed

Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622
Gabreëls-Festen AA, Gabreëls FJ, Hoogendijk JE, Bolhuis PA, Jongen PJ, Vingerhoets HM
Acta Neuropathol 1993;86(6):630-5. doi: 10.1007/BF00294303. PMID: 8310819

Recent clinical studies

Etiology

Espinós C, Calpena E, Martínez-Rubio D, Lupo V
Adv Exp Med Biol 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. PMID: 22411234
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V
J Biomed Biotechnol 2009;2009:985415. Epub 2009 Oct 8 doi: 10.1155/2009/985415. PMID: 19826499Free PMC Article
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Keller MP, Chance PF
Semin Neurol 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. PMID: 10716658
Gabreëls-Festen A, Gabreëls F
Brain Pathol 1993 Apr;3(2):135-46. doi: 10.1111/j.1750-3639.1993.tb00738.x. PMID: 8293175

Diagnosis

Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB
J Med Genet 2020 Apr;57(4):283-288. Epub 2019 Aug 22 doi: 10.1136/jmedgenet-2019-106273. PMID: 31439721
Tazir M, Bellatache M, Nouioua S, Vallat JM
J Peripher Nerv Syst 2013 Jun;18(2):113-29. doi: 10.1111/jns5.12026. PMID: 23781959
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V
J Biomed Biotechnol 2009;2009:985415. Epub 2009 Oct 8 doi: 10.1155/2009/985415. PMID: 19826499Free PMC Article
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Vallat JM
J Neuropathol Exp Neurol 2003 Jul;62(7):699-714. doi: 10.1093/jnen/62.7.699. PMID: 12901697

Therapy

Memezawa S, Sato T, Ochiai A, Fukawa M, Sawaguchi S, Sango K, Miyamoto Y, Yamauchi J
Neurochem Res 2022 Sep;47(9):2684-2702. Epub 2022 Apr 5 doi: 10.1007/s11064-022-03587-z. PMID: 35380399
Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ
Acta Neuropathol 1995;90(6):645-9. doi: 10.1007/BF00318579. PMID: 8615087

Prognosis

Cantarero L, García-Vargas G, Hoenicka J, Palau F
Biol Open 2023 Apr 15;12(4) Epub 2023 Apr 3 doi: 10.1242/bio.059707. PMID: 36912213Free PMC Article
Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374

Clinical prediction guides

Cantarero L, García-Vargas G, Hoenicka J, Palau F
Biol Open 2023 Apr 15;12(4) Epub 2023 Apr 3 doi: 10.1242/bio.059707. PMID: 36912213Free PMC Article
Shi J, Zhao F, Pang X, Huang S, Wang J, Chang X, Zhang J, Liu Y, Guo J, Zhang W
Neuromuscul Disord 2021 Feb;31(2):149-157. Epub 2020 Nov 18 doi: 10.1016/j.nmd.2020.11.002. PMID: 33323309
Escolano-Lozano F, Barreiros AP, Birklein F, Geber C
Brain Behav 2018 Jan;8(1):e00889. Epub 2017 Dec 19 doi: 10.1002/brb3.889. PMID: 29568686Free PMC Article
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
Chance PF
Ann N Y Acad Sci 1999 Sep 14;883:14-21. PMID: 10586225

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