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Hereditary Central Nervous System Demyelinating Diseases

MedGen UID:
148407
Concept ID:
C0751877
Disease or Syndrome
Synonyms: Central Nervous System Demyelinating Diseases, Hereditary; Central Nervous System Demyelinating Hereditary Diseases; Central Nervous System Hereditary Demyelinating Diseases; Demyelinating Central Nervous System Diseases, Hereditary; Demyelinating Diseases, Central Nervous System, Hereditary; Hereditary Demyelinating Diseases, Central Nervous System

Definition

Inherited conditions characterized by a loss of MYELIN in the central nervous system. [from MeSH]

Professional guidelines

PubMed

Gujral J, Sethuram S
Curr Opin Endocrinol Diabetes Obes 2023 Feb 1;30(1):44-51. Epub 2022 Nov 14 doi: 10.1097/MED.0000000000000782. PMID: 36373727
Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

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
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Barañano KW
Semin Neurol 2016 Aug;36(4):362-6. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585455. PMID: 27643905
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Diagnosis

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
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT
Radiographics 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. PMID: 30620693
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Barañano KW
Semin Neurol 2016 Aug;36(4):362-6. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585455. PMID: 27643905
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Therapy

Sun JM, Kurtzberg J
Pediatr Res 2018 Jan;83(1-2):364-371. Epub 2017 Nov 8 doi: 10.1038/pr.2017.254. PMID: 28985203
Helman G, Van Haren K, Escolar ML, Vanderver A
Pediatr Clin North Am 2015 Jun;62(3):649-66. Epub 2015 Apr 8 doi: 10.1016/j.pcl.2015.03.006. PMID: 26022168Free PMC Article
Siva K, Covello G, Denti MA
Nucleic Acid Ther 2014 Feb;24(1):69-86. doi: 10.1089/nat.2013.0461. PMID: 24506781Free PMC Article
Hafner J, Kumar K, Mulligan S, Ng K
J Neurol Sci 2014 Mar 15;338(1-2):218-9. Epub 2013 Dec 31 doi: 10.1016/j.jns.2013.12.032. PMID: 24468536
Meyer zu Hörste G, Mausberg AK, Korth C, Stüve O, Kieseier BC
Drug News Perspect 2010 Jun;23(5):287-94. doi: 10.1358/dnp.2010.23.5.1447850. PMID: 20603652

Prognosis

Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV
Brain Pathol 2014 Sep;24(5):510-8. doi: 10.1111/bpa.12178. PMID: 25323666Free PMC Article
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
Orchard PJ, Tolar J
Semin Hematol 2010 Jan;47(1):70-8. doi: 10.1053/j.seminhematol.2009.10.006. PMID: 20109614

Clinical prediction guides

Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F
Sci Rep 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x. PMID: 34997144Free PMC Article
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT
Radiographics 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. PMID: 30620693
Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P
Clin Genet 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. PMID: 29388673
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article

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