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Clusters of axonal regeneration

MedGen UID:
335897
Concept ID:
C1843169
Finding
HPO: HP:0007233

Definition

Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClusters of axonal regeneration

Conditions with this feature

Charcot-Marie-Tooth disease type 1F
MedGen UID:
334337
Concept ID:
C1843164
Disease or Syndrome
A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).

Recent clinical studies

Etiology

Zhang J, Gan W, Peng R, Lu L, Lu W, Liu J
J Int Med Res 2023 Jun;51(6):3000605231178510. doi: 10.1177/03000605231178510. PMID: 37340717Free PMC Article
Dinoto A, Licciardi NM, Reindl M, Chiodega V, Schanda K, Carta S, Höftberger R, Ferrari S, Mariotto S
Mult Scler Relat Disord 2022 Dec;68:104214. Epub 2022 Oct 3 doi: 10.1016/j.msard.2022.104214. PMID: 36257153
Loh SH, Francescut L, Lingor P, Bähr M, Nicotera P
Cell Death Differ 2008 Feb;15(2):283-98. Epub 2007 Nov 16 doi: 10.1038/sj.cdd.4402258. PMID: 18007665
Revill WP, Voda J, Reeves CR, Chung L, Schirmer A, Ashley G, Carney JR, Fardis M, Carreras CW, Zhou Y, Feng L, Tucker E, Robinson D, Gold BG
J Pharmacol Exp Ther 2002 Sep;302(3):1278-85. doi: 10.1124/jpet.102.034264. PMID: 12183690
Britland ST, Young RJ, Sharma AK, Clarke BF
Diabetes 1990 Aug;39(8):898-908. doi: 10.2337/diab.39.8.898. PMID: 2373262

Diagnosis

Dinoto A, Licciardi NM, Reindl M, Chiodega V, Schanda K, Carta S, Höftberger R, Ferrari S, Mariotto S
Mult Scler Relat Disord 2022 Dec;68:104214. Epub 2022 Oct 3 doi: 10.1016/j.msard.2022.104214. PMID: 36257153
Aggio V, Fabbella L, Finardi A, Mazza EB, Colombo C, Falini A, Benedetti F, Furlan R
J Affect Disord 2022 Mar 1;300:243-248. Epub 2021 Dec 31 doi: 10.1016/j.jad.2021.12.122. PMID: 34979181
Karpińska K, Gielata M, Gwiazdowska A, Boryń Ł, Kobielak A
Int J Mol Sci 2021 Dec 23;23(1) doi: 10.3390/ijms23010140. PMID: 35008571Free PMC Article
Mariotto S, Carta S, Bozzetti S, Zivelonghi C, Alberti D, Zanzoni S, Filosto M, Fusina S, Monaco S, Castellani F, Mantovani A, Cavallaro T, Briani C, Ferrari S
J Neurol 2020 Oct;267(10):2881-2887. Epub 2020 May 27 doi: 10.1007/s00415-020-09949-3. PMID: 32462349
Terracciano C, Pachatz C, Rastelli E, Pastore FS, Melone MAB, Massa R
Ultrastruct Pathol 2018 May-Jun;42(3):312-316. Epub 2018 Mar 27 doi: 10.1080/01913123.2018.1454562. PMID: 29583067

Therapy

Ito S, Ozaki T, Morozumi M, Imagama S, Kadomatsu K, Sakamoto K
Exp Neurol 2021 Jun;340:113679. Epub 2021 Mar 1 doi: 10.1016/j.expneurol.2021.113679. PMID: 33662380
Roloff F, Strauß S, Vogt PM, Bicker G, Radtke C
Biomed Res Int 2014;2014:906819. Epub 2014 May 18 doi: 10.1155/2014/906819. PMID: 24949480Free PMC Article
Hausner T, Nógrádi A
Int Rev Neurobiol 2013;109:85-98. doi: 10.1016/B978-0-12-420045-6.00003-1. PMID: 24093607
Warrington AE, Rodriguez M
Curr Top Microbiol Immunol 2008;318:213-39. doi: 10.1007/978-3-540-73677-6_9. PMID: 18219820Free PMC Article
Sullivan KA, Brown MS, Harmon L, Greene DA
J Peripher Nerv Syst 2003 Dec;8(4):260-70. doi: 10.1111/j.1085-9489.2003.03030.x. PMID: 14641650

Prognosis

Karpińska K, Gielata M, Gwiazdowska A, Boryń Ł, Kobielak A
Int J Mol Sci 2021 Dec 23;23(1) doi: 10.3390/ijms23010140. PMID: 35008571Free PMC Article
Mariotto S, Carta S, Bozzetti S, Zivelonghi C, Alberti D, Zanzoni S, Filosto M, Fusina S, Monaco S, Castellani F, Mantovani A, Cavallaro T, Briani C, Ferrari S
J Neurol 2020 Oct;267(10):2881-2887. Epub 2020 May 27 doi: 10.1007/s00415-020-09949-3. PMID: 32462349
Ojosnegros S, Cutrale F, Rodríguez D, Otterstrom JJ, Chiu CL, Hortigüela V, Tarantino C, Seriola A, Mieruszynski S, Martínez E, Lakadamyali M, Raya A, Fraser SE
Proc Natl Acad Sci U S A 2017 Dec 12;114(50):13188-13193. Epub 2017 Nov 30 doi: 10.1073/pnas.1713564114. PMID: 29192024Free PMC Article
Blazquez-Llorca L, Valero-Freitag S, Rodrigues EF, Merchán-Pérez Á, Rodríguez JR, Dorostkar MM, DeFelipe J, Herms J
Acta Neuropathol Commun 2017 Feb 7;5(1):14. doi: 10.1186/s40478-017-0415-y. PMID: 28173876Free PMC Article
Bosboom WM, van den Berg LH, Franssen H, Giesbergen PC, Flach HZ, van Putten AM, Veldman H, Wokke JH
Brain 2001 Dec;124(Pt 12):2427-38. doi: 10.1093/brain/124.12.2427. PMID: 11701597

Clinical prediction guides

Zhang J, Gan W, Peng R, Lu L, Lu W, Liu J
J Int Med Res 2023 Jun;51(6):3000605231178510. doi: 10.1177/03000605231178510. PMID: 37340717Free PMC Article
Kapell H, Fazio L, Dyckow J, Schwarz S, Cruz-Herranz A, Mayer C, Campos J, D'Este E, Möbius W, Cordano C, Pröbstel AK, Gharagozloo M, Zulji A, Narayanan Naik V, Delank A, Cerina M, Müntefering T, Lerma-Martin C, Sonner JK, Sin JH, Disse P, Rychlik N, Sabeur K, Chavali M, Srivastava R, Heidenreich M, Fitzgerald KC, Seebohm G, Stadelmann C, Hemmer B, Platten M, Jentsch TJ, Engelhardt M, Budde T, Nave KA, Calabresi PA, Friese MA, Green AJ, Acuna C, Rowitch DH, Meuth SG, Schirmer L
J Clin Invest 2023 Apr 3;133(7) doi: 10.1172/JCI164223. PMID: 36719741Free PMC Article
Terracciano C, Pachatz C, Rastelli E, Pastore FS, Melone MAB, Massa R
Ultrastruct Pathol 2018 May-Jun;42(3):312-316. Epub 2018 Mar 27 doi: 10.1080/01913123.2018.1454562. PMID: 29583067
Blazquez-Llorca L, Valero-Freitag S, Rodrigues EF, Merchán-Pérez Á, Rodríguez JR, Dorostkar MM, DeFelipe J, Herms J
Acta Neuropathol Commun 2017 Feb 7;5(1):14. doi: 10.1186/s40478-017-0415-y. PMID: 28173876Free PMC Article
Warrington AE, Rodriguez M
Curr Top Microbiol Immunol 2008;318:213-39. doi: 10.1007/978-3-540-73677-6_9. PMID: 18219820Free PMC Article

Recent systematic reviews

Borger A, Stadlmayr S, Haertinger M, Semmler L, Supper P, Millesi F, Radtke C
Int J Mol Sci 2022 Mar 22;23(7) doi: 10.3390/ijms23073440. PMID: 35408800Free PMC Article

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