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Reduction of oligodendroglia

MedGen UID:
867474
Concept ID:
C4021852
Finding
HPO: HP:0100709

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduction of oligodendroglia

Conditions with this feature

Pelizaeus-Merzbacher disease
MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.

Professional guidelines

PubMed

Kim KW, Ljunggren-Rose Å, Matta P, Toki S, Sriram S
J Neuroimmunol 2023 Nov 15;384:578219. Epub 2023 Oct 4 doi: 10.1016/j.jneuroim.2023.578219. PMID: 37813042
Keshavarz M
Acta Neuropsychiatr 2017 Jun;29(3):140-152. Epub 2016 Oct 24 doi: 10.1017/neu.2016.56. PMID: 27772534
Compston A
Acta Neurol Scand Suppl 2006;183:41-7. doi: 10.1111/j.1600-0404.2006.00614.x. PMID: 16637928

Recent clinical studies

Etiology

Mok KK, Yeung SH, Cheng GW, Ma IW, Lee RH, Herrup K, Tse KH
J Neurochem 2023 Apr;165(1):55-75. Epub 2023 Jan 12 doi: 10.1111/jnc.15748. PMID: 36549843
Jeong H, Mendizabal I, Berto S, Chatterjee P, Layman T, Usui N, Toriumi K, Douglas C, Singh D, Huh I, Preuss TM, Konopka G, Yi SV
Nat Commun 2021 Apr 1;12(1):2021. doi: 10.1038/s41467-021-21917-7. PMID: 33795684Free PMC Article
Liu X, Bautista J, Liu E, Zikopoulos B
Mol Autism 2020 Oct 20;11(1):83. doi: 10.1186/s13229-020-00390-x. PMID: 33081829Free PMC Article
Steullet P, Cabungcal JH, Monin A, Dwir D, O'Donnell P, Cuenod M, Do KQ
Schizophr Res 2016 Sep;176(1):41-51. Epub 2014 Jul 5 doi: 10.1016/j.schres.2014.06.021. PMID: 25000913Free PMC Article
Junker A
FEBS Lett 2011 Dec 1;585(23):3738-46. Epub 2011 Mar 29 doi: 10.1016/j.febslet.2011.03.052. PMID: 21453702

Diagnosis

Borda M, Aquino JB, Mazzone GL
J Neurosci Res 2023 Jan;101(1):86-111. Epub 2022 Sep 26 doi: 10.1002/jnr.25129. PMID: 36164729
Cappelle S, Pareto D, Sunaert S, Smets I, Laenen A, Dubois B, Demaerel P
Neuroimage Clin 2022;36:103248. Epub 2022 Oct 25 doi: 10.1016/j.nicl.2022.103248. PMID: 36451354Free PMC Article
Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Liu X, Bautista J, Liu E, Zikopoulos B
Mol Autism 2020 Oct 20;11(1):83. doi: 10.1186/s13229-020-00390-x. PMID: 33081829Free PMC Article
Kwiecien JM, Dabrowski W, Dąbrowska-Bouta B, Sulkowski G, Oakden W, Kwiecien-Delaney CJ, Yaron JR, Zhang L, Schutz L, Marzec-Kotarska B, Stanisz GJ, Karis JP, Struzynska L, Lucas AR
PLoS One 2020;15(3):e0226584. Epub 2020 Mar 19 doi: 10.1371/journal.pone.0226584. PMID: 32191733Free PMC Article

Therapy

Caverzasi E, Papinutto N, Cordano C, Kirkish G, Gundel TJ, Zhu A, Akula AV, Boscardin WJ, Neeb H, Henry RG, Chan JR, Green AJ
Proc Natl Acad Sci U S A 2023 May 16;120(20):e2217635120. Epub 2023 May 8 doi: 10.1073/pnas.2217635120. PMID: 37155847Free PMC Article
Klein L, Van Steenwinckel J, Fleiss B, Scheuer T, Bührer C, Faivre V, Lemoine S, Blugeon C, Schwendimann L, Csaba Z, Bokobza C, Vousden DA, Lerch JP, Vernon AC, Gressens P, Schmitz T
Glia 2022 Sep;70(9):1699-1719. Epub 2022 May 17 doi: 10.1002/glia.24190. PMID: 35579329Free PMC Article
Altinoz MA, Guloksuz S, Schmidt-Kastner R, Kenis G, Ince B, Rutten BPF
Exp Gerontol 2019 Oct 15;126:110680. Epub 2019 Aug 2 doi: 10.1016/j.exger.2019.110680. PMID: 31382012
Dawson G
J Neurosci Res 2016 Nov;94(11):1293-303. doi: 10.1002/jnr.23805. PMID: 27638611Free PMC Article
Steinman L
J Clin Invest 2015 Apr;125(4):1371-8. Epub 2015 Apr 1 doi: 10.1172/JCI74255. PMID: 25831441Free PMC Article

Prognosis

Bradbury AM, Bongarzone ER, Sands MS
Neurosci Lett 2021 May 1;752:135841. Epub 2021 Mar 22 doi: 10.1016/j.neulet.2021.135841. PMID: 33766733Free PMC Article
Darbinian N, Darbinyan A, Merabova N, Bajwa A, Tatevosian G, Martirosyan D, Zhao H, Selzer ME, Goetzl L
Neurobiol Dis 2021 Jan;148:105181. Epub 2020 Nov 13 doi: 10.1016/j.nbd.2020.105181. PMID: 33189883Free PMC Article
Altinoz MA, Guloksuz S, Schmidt-Kastner R, Kenis G, Ince B, Rutten BPF
Exp Gerontol 2019 Oct 15;126:110680. Epub 2019 Aug 2 doi: 10.1016/j.exger.2019.110680. PMID: 31382012
Kim MJ, Kang JH, Theotokis P, Grigoriadis N, Petratos S
Cells 2018 Dec 20;8(1) doi: 10.3390/cells8010001. PMID: 30577457Free PMC Article
Porter A, Leckie R, Verstynen T
Ann N Y Acad Sci 2018 Sep;1428(1):71-88. Epub 2018 May 11 doi: 10.1111/nyas.13708. PMID: 29749627

Clinical prediction guides

Fernandes MGF, Mohammadnia A, Pernin F, Schmitz-Gielsdorf LE, Hodgins C, Cui QL, Yaqubi M, Blain M, Hall J, Dudley R, Srour M, Zandee SEJ, Klement W, Prat A, Stratton JA, Rodriguez M, Kuhlmann T, Moore W, Kennedy TE, Antel JP
Acta Neuropathol Commun 2023 Jul 5;11(1):108. doi: 10.1186/s40478-023-01601-1. PMID: 37408029Free PMC Article
Graciani AL, Gutierre MU, Coppi AA, Arida RM, Gutierre RC
Neurobiol Aging 2023 Jul;127:70-81. Epub 2023 Mar 30 doi: 10.1016/j.neurobiolaging.2023.03.009. PMID: 37116408
Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Leclercq S, Le Roy T, Furgiuele S, Coste V, Bindels LB, Leyrolle Q, Neyrinck AM, Quoilin C, Amadieu C, Petit G, Dricot L, Tagliatti V, Cani PD, Verbeke K, Colet JM, Stärkel P, de Timary P, Delzenne NM
Cell Rep 2020 Oct 13;33(2):108238. doi: 10.1016/j.celrep.2020.108238. PMID: 33053357
Altinoz MA, Guloksuz S, Schmidt-Kastner R, Kenis G, Ince B, Rutten BPF
Exp Gerontol 2019 Oct 15;126:110680. Epub 2019 Aug 2 doi: 10.1016/j.exger.2019.110680. PMID: 31382012

Recent systematic reviews

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