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Peripheral axon spheroid formation

MedGen UID:
1841980
•Concept ID:
C5826770
•
Finding
HPO: HP:0034922

Definition

Axonal spheroids are bubble-like biological features that form on most degenerating axons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeripheral axon spheroid formation

Recent clinical studies

Etiology

Neuroaxonal dystrophy in PLA2G6 knockout mice.
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
Forced Runx1 expression in human neural stem/progenitor cells transplanted to the rat dorsal root ganglion cavity results in extensive axonal growth specifically from spinal cord-derived neurospheres.
König N, Åkesson E, Telorack M, Vasylovska S, Ngamjariyawat A, Sundström E, Oster A, Trolle C, Berens C, Aldskogius H, Seiger Å, Kozlova EN
Stem Cells Dev 2011 Nov;20(11):1847-57. Epub 2011 Apr 13 doi: 10.1089/scd.2010.0555. PMID: 21322790
Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K
Acta Neuropathol 1998 Jul;96(1):29-40. doi: 10.1007/s004010050857. PMID: 9678511

Diagnosis

Neuroaxonal dystrophy of neonatal onset with unusual clinicopathological findings.
Tachibana H, Hayashi T, Kajii T, Takashima S, Sasaki K
Brain Dev 1986;8(6):605-9. doi: 10.1016/s0387-7604(86)80007-9. PMID: 3826552

Prognosis

Forced Runx1 expression in human neural stem/progenitor cells transplanted to the rat dorsal root ganglion cavity results in extensive axonal growth specifically from spinal cord-derived neurospheres.
König N, Åkesson E, Telorack M, Vasylovska S, Ngamjariyawat A, Sundström E, Oster A, Trolle C, Berens C, Aldskogius H, Seiger Å, Kozlova EN
Stem Cells Dev 2011 Nov;20(11):1847-57. Epub 2011 Apr 13 doi: 10.1089/scd.2010.0555. PMID: 21322790

Clinical prediction guides

Incorporation of decellularized-ECM in graphene-based scaffolds enhances axonal outgrowth and branching in neuro-muscular co-cultures.
Serna C 3rd, Sandepudi K, Keate RL, Zhang SL, Cotton KY, De La Isla A, Murillo M, Bouricha Y, Domenighetti AA, Franz CK, Jordan SW
Sci Prog 2024 Jul-Sep;107(3):368504241281469. doi: 10.1177/00368504241281469. PMID: 39314156Free PMC Article
Repeated intrathecal injections of peripheral nerve-derived stem cell spheroids improve outcomes in a rat model of traumatic brain injury.
Shin HE, Lee WJ, Park KS, Yu Y, Kim G, Roh EJ, Song BG, Jung JH, Cho K, Ha YH, Yang YI, Han I
Stem Cell Res Ther 2024 Sep 19;15(1):314. doi: 10.1186/s13287-024-03874-2. PMID: 39300591Free PMC Article
Neuroprotective strategies in MS: lessons from C57BL/Wld(S) mice.
Coleman MP, Adalbert R, Beirowski B
J Neurol Sci 2005 Jun 15;233(1-2):133-8. doi: 10.1016/j.jns.2005.03.028. PMID: 15899498
Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein.
Probst A, Götz J, Wiederhold KH, Tolnay M, Mistl C, Jaton AL, Hong M, Ishihara T, Lee VM, Trojanowski JQ, Jakes R, Crowther RA, Spillantini MG, Bürki K, Goedert M
Acta Neuropathol 2000 May;99(5):469-81. doi: 10.1007/s004010051148. PMID: 10805089
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.
Wolfe DE, Schindler D, Desnick RJ
J Neurol Sci 1995 Sep;132(1):44-56. doi: 10.1016/0022-510x(95)00124-k. PMID: 8523030

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