Peripheral hypermyelination

MedGen UID:: 866702
•Concept ID:: C4021049
•: Finding

Synonym:	Increased peripheral myelination

HPO:	HP:0030173

Definition

Increased amount of peripheral myelination. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPeripheral hypermyelination

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Abnormal nervous system morphology
      - Abnormal myelination
        Abnormal peripheral myelination
        Peripheral hypermyelination
        Increased peripheral myelin thickness
        Irregular myelin loops
        Myelin outfoldings
        Myelin tomacula

Recent clinical studies

Etiology

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.

Sawade L, Grandi F, Mignanelli M, Patiño-López G, Klinkert K, Langa-Vives F, Di Guardo R, Echard A, Bolino A, Haucke V
Nat Commun 2020 Jun 5;11(1):2835. doi: 10.1038/s41467-020-16696-6. PMID: 32503983 Free PMC Article

Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.

Fabrizi GM, Simonati A, Morbin M, Cavallaro T, Taioli F, Benedetti MD, Edomi P, Rizzuto N
Muscle Nerve 1998 Jul;21(7):869-77. doi: 10.1002/(sici)1097-4598(199807)21:7<869::aid-mus4>3.0.co;2-4. PMID: 9626246

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Diagnosis

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.

Narayanan V, Rice SG, Olfers SS, Sivakumar K
J Child Neurol 2011 Dec;26(12):1585-9. Epub 2011 Jul 10 doi: 10.1177/0883073811412825. PMID: 21745802

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Prognosis

A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.

Veneri FA, Prada V, Mastrangelo R, Ferri C, Nobbio L, Passalacqua M, Milanesi M, Bianchi F, Del Carro U, Vallat JM, Duong P, Svaren J, Schenone A, Grandis M, D'Antonio M
Hum Mol Genet 2022 Dec 16;31(24):4255-4274. doi: 10.1093/hmg/ddac170. PMID: 35908287 Free PMC Article

Bace1 processing of NRG1 type III produces a myelin-inducing signal but is not essential for the stimulation of myelination.

Velanac V, Unterbarnscheidt T, Hinrichs W, Gummert MN, Fischer TM, Rossner MJ, Trimarco A, Brivio V, Taveggia C, Willem M, Haass C, Möbius W, Nave KA, Schwab MH
Glia 2012 Feb;60(2):203-17. Epub 2011 Nov 2 doi: 10.1002/glia.21255. PMID: 22052506 Free PMC Article

Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.

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Clinical prediction guides

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.

Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T, Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J, Timmerman V
Brain 2023 Jul 3;146(7):2885-2896. doi: 10.1093/brain/awac475. PMID: 36511878 Free PMC Article

A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.

Bace1 processing of NRG1 type III produces a myelin-inducing signal but is not essential for the stimulation of myelination.

Peripheral neuropathy associated with immunoglobulin disorders an immunological and ultrastructural study.

Nardelli E, Pizzighella S, Tridente G, Rizzuto N
Acta Neuropathol Suppl 1981;7:258-61. doi: 10.1007/978-3-642-81553-9_76. PMID: 6784441

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