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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
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA
Neuromuscul Disord 2008 Jan;18(1):59-62. Epub 2007 Sep 6 doi: 10.1016/j.nmd.2007.07.011. PMID: 17825553
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I
Eur J Paediatr Neurol 2004;8(4):221-4. doi: 10.1016/j.ejpn.2004.04.001. PMID: 15261887
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, a long term follow-up study in an affected family.
Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA
Neuromuscul Disord 2008 Jan;18(1):59-62. Epub 2007 Sep 6 doi: 10.1016/j.nmd.2007.07.011. PMID: 17825553
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I
Eur J Paediatr Neurol 2004;8(4):221-4. doi: 10.1016/j.ejpn.2004.04.001. PMID: 15261887
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
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S
J Neuropathol Exp Neurol 2016 Dec 1;75(12):1155-1159. doi: 10.1093/jnen/nlw093. PMID: 27818385Free PMC Article
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion.
Jouaud M, Gonnaud PM, Richard L, Latour P, Ollagnon-Roman E, Sturtz F, Mathis S, Magy L, Vallat JM
Neuromuscul Disord 2016 Apr-May;26(4-5):316-21. Epub 2016 Apr 5 doi: 10.1016/j.nmd.2016.01.004. PMID: 27067623
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

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