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Abnormal cerebral cortex morphology

MedGen UID:
871221
•Concept ID:
C4025701
•
Anatomical Abnormality
Synonym: Abnormality of the cerebral cortex
 
HPO: HP:0002538

Definition

Any structural abnormality of the cerebral cortex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal cerebral cortex morphology

Professional guidelines

PubMed

Critical involvement of the motor cortex in the pathophysiology and treatment of Parkinson's disease.
Lindenbach D, Bishop C
Neurosci Biobehav Rev 2013 Dec;37(10 Pt 2):2737-50. Epub 2013 Oct 7 doi: 10.1016/j.neubiorev.2013.09.008. PMID: 24113323Free PMC Article
Electrocortical features of depression and their clinical utility in assessing antidepressant treatment outcome.
Jaworska N, Protzner A
Can J Psychiatry 2013 Sep;58(9):509-14. doi: 10.1177/070674371305800905. PMID: 24099498
Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus.
Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930

Recent clinical studies

Etiology

Inborn errors of metabolism leading to neuronal migration defects.
Schiller S, Rosewich H, Grünewald S, Gärtner J
J Inherit Metab Dis 2020 Jan;43(1):145-155. Epub 2019 Dec 10 doi: 10.1002/jimd.12194. PMID: 31747049
Magnetoencephalography and New Imaging Modalities in Epilepsy.
Falco-Walter J, Owen C, Sharma M, Reggi C, Yu M, Stoub TR, Stein MA
Neurotherapeutics 2017 Jan;14(1):4-10. doi: 10.1007/s13311-016-0506-7. PMID: 28054328Free PMC Article
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Neuronal migration disorders.
Guerrini R, Parrini E
Neurobiol Dis 2010 May;38(2):154-66. Epub 2009 Feb 23 doi: 10.1016/j.nbd.2009.02.008. PMID: 19245832
Neuroimaging in infantile autism.
Schifter T, Hoffman JM, Hatten HP Jr, Hanson MW, Coleman RE, DeLong GR
J Child Neurol 1994 Apr;9(2):155-61. doi: 10.1177/088307389400900210. PMID: 8006366

Diagnosis

Diagnostic work-up in malformations of cortical development.
Rijckmans E, Stouffs K, Jansen AC
Dev Med Child Neurol 2024 Aug;66(8):974-989. Epub 2024 Feb 23 doi: 10.1111/dmcn.15882. PMID: 38394064
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
A developmental and genetic classification for malformations of cortical development: update 2012.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB
Brain 2012 May;135(Pt 5):1348-69. Epub 2012 Mar 16 doi: 10.1093/brain/aws019. PMID: 22427329Free PMC Article
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission.
Blümcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R
Epilepsia 2011 Jan;52(1):158-74. Epub 2010 Nov 10 doi: 10.1111/j.1528-1167.2010.02777.x. PMID: 21219302Free PMC Article
The plastic human brain cortex.
Pascual-Leone A, Amedi A, Fregni F, Merabet LB
Annu Rev Neurosci 2005;28:377-401. doi: 10.1146/annurev.neuro.27.070203.144216. PMID: 16022601

Therapy

Epileptic diathesis: An EEG-LORETA study.
Clemens B, Emri M, Fekete I, Fekete K
Clin Neurophysiol 2023 Jan;145:54-61. Epub 2022 Nov 17 doi: 10.1016/j.clinph.2022.11.004. PMID: 36442376
Effects of levodopa on regional cerebral metabolism and blood flow.
Ko JH, Lerner RP, Eidelberg D
Mov Disord 2015 Jan;30(1):54-63. Epub 2014 Oct 9 doi: 10.1002/mds.26041. PMID: 25296957Free PMC Article
Neuronal oscillations in Parkinson's disease.
Witcher M, Moran R, Tatter SB, Laxton AW
Front Biosci (Landmark Ed) 2014 Jun 1;19(8):1291-9. doi: 10.2741/4282. PMID: 24896351
Functional organization of the basal ganglia: therapeutic implications for Parkinson's disease.
Obeso JA, Rodríguez-Oroz MC, Benitez-Temino B, Blesa FJ, Guridi J, Marin C, Rodriguez M
Mov Disord 2008;23 Suppl 3:S548-59. doi: 10.1002/mds.22062. PMID: 18781672
Cortical dysplasia: neuropathological aspects.
Rickert CH
Childs Nerv Syst 2006 Aug;22(8):821-6. Epub 2006 Jun 9 doi: 10.1007/s00381-006-0126-3. PMID: 16763857

Prognosis

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Riva M, Ferreira S, Hayashi K, Saillour Y, Medvedeva VP, Honda T, Hayashi K, Altersitz C, Albadri S, Rosello M, Dang J, Serafini M, Causeret F, Henry OJ, Roux CJ, Bellesme C, Freri E, Josifova D, Parrini E, Guerrini R, Del Bene F, Nakajima K, Bahi-Buisson N, Pierani A
J Clin Invest 2024 Jul 9;134(16) doi: 10.1172/JCI153097. PMID: 38980724Free PMC Article
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Walker-Warburg syndrome variant.
Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T
Comput Med Imaging Graph 2002 Nov-Dec;26(6):453-8. doi: 10.1016/s0895-6111(02)00026-5. PMID: 12453509
Disconnective hemispherectomy.
Danielpour M, von Koch CS, Ojemann SG, Peacock WJ
Pediatr Neurosurg 2001 Oct;35(4):169-72. doi: 10.1159/000050417. PMID: 11694793
Glycogenosis type VIII.
Kornfeld M, LeBaron M
J Neuropathol Exp Neurol 1984 Nov;43(6):568-79. doi: 10.1097/00005072-198411000-00002. PMID: 6594438

Clinical prediction guides

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Riva M, Ferreira S, Hayashi K, Saillour Y, Medvedeva VP, Honda T, Hayashi K, Altersitz C, Albadri S, Rosello M, Dang J, Serafini M, Causeret F, Henry OJ, Roux CJ, Bellesme C, Freri E, Josifova D, Parrini E, Guerrini R, Del Bene F, Nakajima K, Bahi-Buisson N, Pierani A
J Clin Invest 2024 Jul 9;134(16) doi: 10.1172/JCI153097. PMID: 38980724Free PMC Article
Integrating multimodal and multiscale connectivity blueprints of the human cerebral cortex in health and disease.
Hansen JY, Shafiei G, Voigt K, Liang EX, Cox SML, Leyton M, Jamadar SD, Misic B
PLoS Biol 2023 Sep;21(9):e3002314. Epub 2023 Sep 25 doi: 10.1371/journal.pbio.3002314. PMID: 37747886Free PMC Article
The neuroanatomy of autism - a developmental perspective.
Donovan AP, Basson MA
J Anat 2017 Jan;230(1):4-15. Epub 2016 Sep 12 doi: 10.1111/joa.12542. PMID: 27620360Free PMC Article
Review of the Anatomy of the Distal Anterior Cerebral Artery and Its Anomalies.
Cilliers K, Page BJ
Turk Neurosurg 2016;26(5):653-61. doi: 10.5137/1019-5149.JTN.14294-15.1. PMID: 27337235
Neuropathology of lissencephalies.
Kuchelmeister K, Bergmann M, Gullotta F
Childs Nerv Syst 1993 Nov;9(7):394-9. doi: 10.1007/BF00306191. PMID: 8306354

Recent systematic reviews

Postoperative seizure and memory outcome of temporal lobe epilepsy with hippocampal sclerosis: A systematic review.
Li Y, Liu P, Lin Q, Zhou D, An D
Epilepsia 2023 Nov;64(11):2845-2860. Epub 2023 Sep 30 doi: 10.1111/epi.17757. PMID: 37611927
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.
Rijckmans E, Stouffs K, Jansen AC, Brock S
Eur J Paediatr Neurol 2022 Mar;37:155-164. Epub 2021 Aug 31 doi: 10.1016/j.ejpn.2021.08.006. PMID: 34535379
Neuroimaging hippocampal subfields in schizophrenia and bipolar disorder: A systematic review and meta-analysis.
Haukvik UK, Tamnes CK, Söderman E, Agartz I
J Psychiatr Res 2018 Sep;104:217-226. Epub 2018 Aug 7 doi: 10.1016/j.jpsychires.2018.08.012. PMID: 30107268
Altered Primary Motor Cortex Structure, Organization, and Function in Chronic Pain: A Systematic Review and Meta-Analysis.
Chang WJ, O'Connell NE, Beckenkamp PR, Alhassani G, Liston MB, Schabrun SM
J Pain 2018 Apr;19(4):341-359. Epub 2018 Jan 12 doi: 10.1016/j.jpain.2017.10.007. PMID: 29155209
Task and resting-state fMRI studies in first-episode schizophrenia: A systematic review.
Mwansisya TE, Hu A, Li Y, Chen X, Wu G, Huang X, Lv D, Li Z, Liu C, Xue Z, Feng J, Liu Z
Schizophr Res 2017 Nov;189:9-18. Epub 2017 Mar 3 doi: 10.1016/j.schres.2017.02.026. PMID: 28268041

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