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Central nervous system axonal spheroid

MedGen UID:
1815105
Concept ID:
C5706199
Finding
Synonym: CNS axonal spheroid
 
HPO: HP:0034381

Definition

Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral nervous system axonal spheroid

Conditions with this feature

Leukoencephalopathy, diffuse hereditary, with spheroids 1
MedGen UID:
1794139
Concept ID:
C5561929
Disease or Syndrome
CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years).

Professional guidelines

PubMed

Sekiya H, Koga S, Murakami A, Kawazoe M, Kim M, Martin NB, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW
Neurology 2023 Dec 12;101(24):e2460-e2471. Epub 2023 Oct 10 doi: 10.1212/WNL.0000000000207905. PMID: 37816641Free PMC Article
Ayrignac X, Carra-Dallière C, Codjia P, Mouzat K, Castelnovo G, Ellie E, Etcharry-Bouyx F, Belliard S, Marelli C, Portet F, Le Ber I, Durand-Dubief F, Mathey G, Stankoff B, Dorboz I, Drunat S, Boespflug-Tanguy O, Menjot de Champfleur N, Lumbroso S, Mochel F, Labauge P
Eur J Neurol 2022 Jan;29(1):329-334. Epub 2021 Sep 28 doi: 10.1111/ene.15115. PMID: 34541732
Cruz-Sánchez FF, Moral A, de Belleroche J, Rossi ML
J Neural Transm Suppl 1993;39:215-22. PMID: 8360661

Recent clinical studies

Etiology

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
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
Wiethoff S, Houlden H
Handb Clin Neurol 2017;145:157-166. doi: 10.1016/B978-0-12-802395-2.00011-0. PMID: 28987166
Sumi-Akamaru H, Beck G, Kato S, Mochizuki H
Neuropathology 2015 Jun;35(3):289-302. Epub 2015 May 6 doi: 10.1111/neup.12202. PMID: 25950622
Jellinger KA
Mov Disord 2003 Sep;18 Suppl 6:S2-12. doi: 10.1002/mds.10557. PMID: 14502650

Diagnosis

De Cocker LJL, Castillo M
Neuroradiology 2021 Jan;63(1):153-156. Epub 2020 Sep 3 doi: 10.1007/s00234-020-02543-4. PMID: 32879996
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
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
Jellinger KA
Mov Disord 2003 Sep;18 Suppl 6:S2-12. doi: 10.1002/mds.10557. PMID: 14502650
Gordon N
Eur J Paediatr Neurol 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606. PMID: 12374576

Therapy

Lim KY, Kim SI, Kim H, Kang J, Park JW, Won JK, Shin DY, Park SH
BMC Neurol 2022 Aug 3;22(1):288. doi: 10.1186/s12883-022-02818-8. PMID: 35922754Free PMC Article
Alturkustani M, Ang LC, Ramsay D
Neuropathology 2017 Aug;37(4):321-328. Epub 2017 Mar 9 doi: 10.1111/neup.12377. PMID: 28276094
Koechling T, Khalique H, Sundström E, Ávila J, Lim F
J Neurosci Methods 2011 Oct 15;201(2):346-54. Epub 2011 Aug 19 doi: 10.1016/j.jneumeth.2011.08.024. PMID: 21872620
Kato T, Ren CH, Wada M, Kawanami T
Curr Drug Targets 2005 Jun;6(4):407-18. doi: 10.2174/1389450054021846. PMID: 16026259
Itoh M, Hayashi M, Shioda K, Minagawa M, Isa F, Tamagawa K, Morimatsu Y, Oda M
Brain Dev 1999 Jul;21(5):326-33. doi: 10.1016/s0387-7604(99)00033-9. PMID: 10413020

Prognosis

Sekiya H, Koga S, Murakami A, Kawazoe M, Kim M, Martin NB, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW
Neurology 2023 Dec 12;101(24):e2460-e2471. Epub 2023 Oct 10 doi: 10.1212/WNL.0000000000207905. PMID: 37816641Free PMC Article
Suthar PP, Jhaveri M, Mafraji M
Radiology 2023 Sep;308(3):e220790. doi: 10.1148/radiol.220790. PMID: 37750775
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
Pfeifenbring S, Bunyan RF, Metz I, Röver C, Huppke P, Gärtner J, Lucchinetti CF, Brück W
Ann Neurol 2015 Apr;77(4):655-67. Epub 2015 Feb 26 doi: 10.1002/ana.24364. PMID: 25612167Free PMC Article
Gordon N
Eur J Paediatr Neurol 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606. PMID: 12374576

Clinical prediction guides

Sekiya H, Koga S, Murakami A, Kawazoe M, Kim M, Martin NB, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW
Neurology 2023 Dec 12;101(24):e2460-e2471. Epub 2023 Oct 10 doi: 10.1212/WNL.0000000000207905. PMID: 37816641Free PMC Article
Bianchin MM, Snow Z
Neuroscience 2022 Aug 10;497:324-339. Epub 2022 Jun 24 doi: 10.1016/j.neuroscience.2022.06.032. PMID: 35760218
Mejia Maza A, Carmen-Orozco RP, Carter ES, Dávila-Villacorta DG, Castillo G, Morales JD, Mamani J, Gavídia CM, Alroy J, Sterling CR, Gonzalez AE, García HH, Woltjer RL, Verástegui MR, Gilman RH; Cysticercosis Working Group in Peru
Brain Pathol 2019 May;29(3):425-436. Epub 2018 Dec 11 doi: 10.1111/bpa.12669. PMID: 30368965Free PMC Article
Wiethoff S, Houlden H
Handb Clin Neurol 2017;145:157-166. doi: 10.1016/B978-0-12-802395-2.00011-0. PMID: 28987166
Sasaki A
Neuropathology 2017 Oct;37(5):452-464. Epub 2016 Nov 18 doi: 10.1111/neup.12354. PMID: 27859676

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Mickeviciute GC, Valiuskyte M, Plattén M, Wszolek ZK, Andersen O, Danylaité Karrenbauer V, Ineichen BV, Granberg T
J Intern Med 2022 Mar;291(3):269-282. Epub 2021 Dec 22 doi: 10.1111/joim.13420. PMID: 34875121

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