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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

An update on the diagnosis and treatment of adrenoleukodystrophy.
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
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
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
X-linked adrenoleukodystrophy: pathogenesis and treatment.
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

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
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
Adulthood leukodystrophies.
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: 29302065Free PMC Article
Emerging treatments for pediatric leukodystrophies.
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
Leukodystrophies.
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
The ovarioleukodystrophy.
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442

Diagnosis

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
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
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
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
Adulthood leukodystrophies.
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: 29302065Free PMC Article
Leukoencephalopathies in adulthood.
Tillema JM, Renaud DL
Semin Neurol 2012 Feb;32(1):85-94. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306391. PMID: 22422211
Leukoencephalopathies associated with macrocephaly.
Renaud DL
Semin Neurol 2012 Feb;32(1):34-41. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306384. PMID: 22422204

Therapy

Cell therapy for diverse central nervous system disorders: inherited metabolic diseases and autism.
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
Emerging treatments for pediatric leukodystrophies.
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
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.
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
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.
Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski CC, Meitinger T, Jauch A, Oexle K
Eur J Med Genet 2012 Oct;55(10):568-72. Epub 2012 Jul 7 doi: 10.1016/j.ejmg.2012.06.010. PMID: 22776853
X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease.
Isoardo G, Di Vito N, Nobile M, Benetton G, Fassio F
Neurology 2005 Nov 22;65(10):1672-3. doi: 10.1212/01.wnl.0000186032.06791.94. PMID: 16301507

Prognosis

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility.
Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL
Nat Commun 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x. PMID: 38769304Free PMC Article
Elevated Leukodystrophy Incidence Predicted From Genomics Databases.
Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL
Pediatr Neurol 2020 Oct;111:66-69. Epub 2020 Jun 17 doi: 10.1016/j.pediatrneurol.2020.06.005. PMID: 32951664Free PMC Article
Adulthood leukodystrophies.
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: 29302065Free PMC Article
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
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
Leukodystrophies.
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Clinical prediction guides

Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD, Ando S, Holley JA, Sugie A, Zhao FR, Poddar S, Kato R, Miner CA, Nitta Y, Krishnamurthy SR, Saito R, Ning Y, Hatano Y, Kitahara S, Koide S, Stinson WA, Fu J, Surve N, Kumble L, Qian W, Polishchuk O, Andhey PS, Chiang C, Liu G, Colombeau L, Rodriguez R, Manel N, Kakita A, Artyomov MN, Schultz DC, Coates PT, Roberson EDO, Belkaid Y, Greenberg RA, Cherry S, Gack MU, Hardy T, Onodera O, Kato T, Miner JJ
Nat Commun 2024 Jun 1;15(1):4696. doi: 10.1038/s41467-024-49066-7. PMID: 38824133Free PMC Article
Elevated Leukodystrophy Incidence Predicted From Genomics Databases.
Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL
Pediatr Neurol 2020 Oct;111:66-69. Epub 2020 Jun 17 doi: 10.1016/j.pediatrneurol.2020.06.005. PMID: 32951664Free PMC Article
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
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
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
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
The ovarioleukodystrophy.
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442

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