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Congenital hypomyelinating neuropathy(CHN)

MedGen UID:
97965
•Concept ID:
C0393818
•
Disease or Syndrome
Synonyms: CHN; Neuropathy, congenital hypomelinating
SNOMED CT: Congenital hypomyelinating neuropathy (230562000); Lyon's hypomyelinating neuropathy (230562000); Autosomal recessive congenital hypomyelinating neuropathy (763135001)
 
Related genes: CNTNAP1, MPZ, EGR2
 
Monarch Initiative: MONDO:0033352
OMIM® Phenotypic series: PS605253

Term Hierarchy

Follow this link to review classifications for Congenital hypomyelinating neuropathy in Orphanet.

Professional guidelines

PubMed

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR
Am J Hum Genet 2005 Nov;77(5):841-50. Epub 2005 Sep 30 doi: 10.1086/497541. PMID: 16252242Free PMC Article

Recent clinical studies

Etiology

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J
Brain Pathol 2024 Jan;34(1):e13200. Epub 2023 Aug 15 doi: 10.1111/bpa.13200. PMID: 37581289Free PMC Article
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H, Reilly MM
Neuromolecular Med 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43. PMID: 16775366
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G
Brain 2004 Nov;127(Pt 11):2540-50. Epub 2004 Oct 6 doi: 10.1093/brain/awh275. PMID: 15469949
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
Phillips JP, Warner LE, Lupski JR, Garg BP
Pediatr Neurol 1999 Mar;20(3):226-32. doi: 10.1016/s0887-8994(98)00138-6. PMID: 10207934
Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Warner LE, Garcia CA, Lupski JR
Annu Rev Med 1999;50:263-75. doi: 10.1146/annurev.med.50.1.263. PMID: 10073277

Diagnosis

Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy.
Ravikumar S, Devi U, Balakrishnan U, Chandrasekaran A
BMJ Case Rep 2022 Jan 20;15(1) doi: 10.1136/bcr-2021-247555. PMID: 35058287Free PMC Article
Early onset (childhood) monogenic neuropathies.
Landrieu P, Baets J
Handb Clin Neurol 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. PMID: 23931819
Congenital hypomyelinating neuropathy.
Chandra SR, Kalpana D, Radhakrishnan VV, Kannan SR
Indian Pediatr 2003 Nov;40(11):1084-7. PMID: 14660842
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
Phillips JP, Warner LE, Lupski JR, Garg BP
Pediatr Neurol 1999 Mar;20(3):226-32. doi: 10.1016/s0887-8994(98)00138-6. PMID: 10207934
Congenital hypomyelinating neuropathy.
Harati Y, Butler IJ
J Neurol Neurosurg Psychiatry 1985 Dec;48(12):1269-76. doi: 10.1136/jnnp.48.12.1269. PMID: 4087003Free PMC Article

Therapy

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR
Am J Hum Genet 2007 Sep;81(3):438-53. Epub 2007 Aug 3 doi: 10.1086/519926. PMID: 17701891Free PMC Article
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR
Am J Hum Genet 2005 Nov;77(5):841-50. Epub 2005 Sep 30 doi: 10.1086/497541. PMID: 16252242Free PMC Article
Congenital hypomyelinating neuropathy.
Chandra SR, Kalpana D, Radhakrishnan VV, Kannan SR
Indian Pediatr 2003 Nov;40(11):1084-7. PMID: 14660842

Prognosis

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB
Muscle Nerve 2017 May;55(5):761-765. Epub 2017 Feb 3 doi: 10.1002/mus.25416. PMID: 27668699Free PMC Article
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C
J Peripher Nerv Syst 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. PMID: 22176150
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
Baloh RH, Strickland A, Ryu E, Le N, Fahrner T, Yang M, Nagarajan R, Milbrandt J
J Neurosci 2009 Feb 25;29(8):2312-21. doi: 10.1523/JNEUROSCI.2168-08.2009. PMID: 19244508Free PMC Article
Congenital hypomyelinating neuropathy.
Chandra SR, Kalpana D, Radhakrishnan VV, Kannan SR
Indian Pediatr 2003 Nov;40(11):1084-7. PMID: 14660842
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
Phillips JP, Warner LE, Lupski JR, Garg BP
Pediatr Neurol 1999 Mar;20(3):226-32. doi: 10.1016/s0887-8994(98)00138-6. PMID: 10207934

Clinical prediction guides

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J
Brain Pathol 2024 Jan;34(1):e13200. Epub 2023 Aug 15 doi: 10.1111/bpa.13200. PMID: 37581289Free PMC Article
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst 2023 Sep;28(3):359-367. Epub 2023 Jun 18 doi: 10.1111/jns.12572. PMID: 37306961
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C
J Peripher Nerv Syst 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. PMID: 22176150
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
Baloh RH, Strickland A, Ryu E, Le N, Fahrner T, Yang M, Nagarajan R, Milbrandt J
J Neurosci 2009 Feb 25;29(8):2312-21. doi: 10.1523/JNEUROSCI.2168-08.2009. PMID: 19244508Free PMC Article
Dejerine-Sottas disease: a case report.
Marinho JL, Alonso Nieto JL, Calore EE
Sao Paulo Med J 2003 Sep 1;121(5):207-9. Epub 2003 Nov 5 doi: 10.1590/s1516-31802003000500006. PMID: 14666293Free PMC Article

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