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DEJERINE-SOTTAS SYNDROME, SPORADIC

MedGen UID:
864702
Concept ID:
C4016265
Finding
OMIM®: 159440

Professional guidelines

PubMed

Viana Pinto L, Romeiro I, Gouveia F, Ramalho J, Ribeiro Silva S, Táboas Simões MI, Rodrigues Leal J
Int J Rehabil Res 2024 Mar 1;47(1):3-9. Epub 2024 Jan 20 doi: 10.1097/MRR.0000000000000607. PMID: 38251093
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V
Eur J Neurol 2021 Apr;28(4):1334-1343. Epub 2021 Jan 10 doi: 10.1111/ene.14700. PMID: 33369814
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440

Recent clinical studies

Etiology

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
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J
Mov Disord 2022 Jun;37(6):1175-1186. Epub 2022 Feb 12 doi: 10.1002/mds.28959. PMID: 35150594Free PMC Article
Sun B, Chen Z, Ling L, Yang F, Huang X
J Peripher Nerv Syst 2017 Mar;22(1):13-18. doi: 10.1111/jns.12195. PMID: 27862672
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794
Ouvrier RA, Nicholson GA
Brain Dev 1995;17 Suppl:31-8. PMID: 8882569

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: 31439721Free PMC Article
Liu N, Chen J, Xu C, Shi T, Li J
Hereditas 2019;156:28. Epub 2019 Aug 13 doi: 10.1186/s41065-019-0104-x. PMID: 31427910Free PMC Article
Duchesne M, Mathis S, Richard L, Magdelaine C, Corcia P, Nouioua S, Tazir M, Magy L, Vallat JM
J Neuropathol Exp Neurol 2018 Feb 1;77(2):88-99. doi: 10.1093/jnen/nlx111. PMID: 29300988
Vital A, Vital C
J Neuropathol Exp Neurol 2012 Dec;71(12):1036-46. doi: 10.1097/NEN.0b013e3182764d47. PMID: 23147504
Auer-Grumbach M
Drugs Today (Barc) 2004 May;40(5):385-94. doi: 10.1358/dot.2004.40.5.850487. PMID: 15319794

Therapy

Viana Pinto L, Romeiro I, Gouveia F, Ramalho J, Ribeiro Silva S, Táboas Simões MI, Rodrigues Leal J
Int J Rehabil Res 2024 Mar 1;47(1):3-9. Epub 2024 Jan 20 doi: 10.1097/MRR.0000000000000607. PMID: 38251093
Zeigelboim BS, José MR, Santos GJBD, Severiano MIR, Teive HAG, Stechman-Neto J, Santos RS, de Araújo CM, Cavalcante-Leão BL
PLoS One 2021;16(4):e0249095. Epub 2021 Apr 1 doi: 10.1371/journal.pone.0249095. PMID: 33793609Free PMC Article
Kodaira M, Kodama S, Kamijo Y, Kaneko T, Sekijima Y
Brain Behav 2017 Sep;7(9):e00783. Epub 2017 Jul 27 doi: 10.1002/brb3.783. PMID: 28948078Free PMC Article
Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C
Brain 2016 Jan;139(Pt 1):62-72. Epub 2015 Oct 24 doi: 10.1093/brain/awv311. PMID: 26497905
Klebe S, Deuschl G, Stolze H
Mov Disord 2006 Sep;21(9):1468-71. doi: 10.1002/mds.20973. PMID: 16705687

Prognosis

Liu N, Chen J, Xu C, Shi T, Li J
Hereditas 2019;156:28. Epub 2019 Aug 13 doi: 10.1186/s41065-019-0104-x. PMID: 31427910Free PMC Article
Kanemaru K, Ogawa G, Mochizuki H, Nakazato M, Shiomi K
Intern Med 2019 Jul 15;58(14):2091-2093. Epub 2019 Apr 17 doi: 10.2169/internalmedicine.2318-18. PMID: 30996168Free PMC Article
Cazzato D, Dalla Bella E, Saveri P, Taroni F, Marucci G, Lauria G
Neurol Sci 2019 Jun;40(6):1267-1269. Epub 2019 Jan 26 doi: 10.1007/s10072-019-3716-z. PMID: 30685801
Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A
Neuromuscul Disord 2012 Jun;22(6):511-21. Epub 2012 Apr 2 doi: 10.1016/j.nmd.2012.01.011. PMID: 22475618
Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT
Hum Mutat 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682. PMID: 18200586

Clinical prediction guides

Liu N, Chen J, Xu C, Shi T, Li J
Hereditas 2019;156:28. Epub 2019 Aug 13 doi: 10.1186/s41065-019-0104-x. PMID: 31427910Free PMC Article
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R
Brain 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. PMID: 28459997Free PMC Article
Vital A, Vital C
J Neuropathol Exp Neurol 2012 Dec;71(12):1036-46. doi: 10.1097/NEN.0b013e3182764d47. PMID: 23147504
Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C
Neurogenetics 2009 Apr;10(2):97-104. Epub 2008 Oct 15 doi: 10.1007/s10048-008-0158-9. PMID: 18855023
Gabreëls-Festen AA, Gabreëls FJ, Jennekens FG, Janssen-van Kempen TW
Neuromuscul Disord 1994 Jan;4(1):63-9. doi: 10.1016/0960-8966(94)90049-3. PMID: 8173353

Recent systematic reviews

Viana Pinto L, Romeiro I, Gouveia F, Ramalho J, Ribeiro Silva S, Táboas Simões MI, Rodrigues Leal J
Int J Rehabil Res 2024 Mar 1;47(1):3-9. Epub 2024 Jan 20 doi: 10.1097/MRR.0000000000000607. PMID: 38251093

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