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Charcot-Marie-Tooth disease, type 1a, autosomal recessive

MedGen UID:
865153
Concept ID:
C4016716
Finding
Synonym: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE
 
OMIM®: 601097

Professional guidelines

PubMed

Georgiou E, Kagiava A, Sargiannidou I, Schiza N, Stavrou M, Richter J, Tryfonos C, Heslegrave A, Zetterberg H, Christodoulou C, Kleopa KA
Mol Ther 2023 Nov 1;31(11):3290-3307. Epub 2023 Aug 28 doi: 10.1016/j.ymthe.2023.08.020. PMID: 37641403Free PMC Article
Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, Bonello-Palot N
Clin Genet 2022 Nov;102(5):379-390. Epub 2022 Aug 16 doi: 10.1111/cge.14198. PMID: 35882622Free PMC Article
Xu L, Wang G, Lv X, Zhang D, Yan C, Lin P
Acta Neurol Belg 2022 Oct;122(5):1305-1312. Epub 2022 Jun 29 doi: 10.1007/s13760-022-02006-y. PMID: 35767146

Recent clinical studies

Etiology

Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
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
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

Diagnosis

Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
Kramarz C, Rossor AM
J Neurol 2022 Sep;269(9):5187-5191. Epub 2022 May 21 doi: 10.1007/s00415-022-11164-1. PMID: 35596796Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Morena J, Gupta A, Hoyle JC
Int J Mol Sci 2019 Jul 12;20(14) doi: 10.3390/ijms20143419. PMID: 31336816Free PMC Article
Liu L, Zhang R
Neurosci Bull 2014 Dec;30(6):999-1009. Epub 2014 Oct 17 doi: 10.1007/s12264-014-1475-7. PMID: 25326399Free PMC Article

Therapy

Mills JF, Heiland LD, Nguyen SA, Close MF, Meyer TA
Otol Neurotol 2024 Aug 1;45(7):732-739. Epub 2024 Jul 2 doi: 10.1097/MAO.0000000000004243. PMID: 38956759
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free 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
Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM
J Neurol Sci 2014 Dec 15;347(1-2):14-22. Epub 2014 Oct 16 doi: 10.1016/j.jns.2014.10.013. PMID: 25454638
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article

Prognosis

Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
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
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free 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

Clinical prediction guides

Sadjadi R, Picher-Martel V, Morrow JM, Thedens D, DiCamillo PA, McCray BA, Pareyson D, Herrmann DN, Reilly MM, Li J, Castro D, Shy ME; Inherited Neuropathy Consortium
Neurology 2024 Sep 10;103(5):e209763. Epub 2024 Aug 12 doi: 10.1212/WNL.0000000000209763. PMID: 39133880
Lu Y, Xing H, Liu C, Huang D, Sun C, Yu M, Meng L, Lv H, Zhang W, Wang Z, Yuan Y, Xie Z
Pediatr Neurol 2023 Mar;140:25-34. Epub 2022 Nov 24 doi: 10.1016/j.pediatrneurol.2022.11.013. PMID: 36599231
Levkova M, Stoyanova M, Benkova-Petrova M, Georgieva M, Angelova L
J Am Assoc Nurse Pract 2022 Aug 1;34(8):1018-1021. doi: 10.1097/JXX.0000000000000745. PMID: 35731603
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Brain 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. PMID: 33415332Free PMC Article
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169

Recent systematic reviews

Mills JF, Heiland LD, Nguyen SA, Close MF, Meyer TA
Otol Neurotol 2024 Aug 1;45(7):732-739. Epub 2024 Jul 2 doi: 10.1097/MAO.0000000000004243. PMID: 38956759
Yalcouyé A, Esoh K, Guida L, Wonkam A
J Peripher Nerv Syst 2022 Jun;27(2):100-112. Epub 2022 Apr 5 doi: 10.1111/jns.12489. PMID: 35383421Free PMC Article
Tsamis KI, Xiromerisiou G, Nikas IP, Giannakis A, Konitsiotis S, Sarmas I
Lab Med 2022 Mar 7;53(2):210-214. doi: 10.1093/labmed/lmab060. PMID: 34480178
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

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