U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebral white matter agenesis

MedGen UID:
347986
•Concept ID:
C1859969
•
Finding; Pathologic Function
Synonym: Agenesis of cerebral white matter
 
HPO: HP:0200017
Monarch Initiative: MONDO:0008739
OMIM®: 202600

Definition

Congenital defect with failure of the development of the cerebral white matter. [from HPO]

Clinical features

From HPO
Cerebral white matter agenesis
MedGen UID:
347986
•Concept ID:
C1859969
•
Pathologic Function
Congenital defect with failure of the development of the cerebral white matter.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral white matter agenesis

Conditions with this feature

Cerebral white matter agenesis
MedGen UID:
347986
•Concept ID:
C1859969
•
Pathologic Function
Congenital defect with failure of the development of the cerebral white matter.
See: Condition Record
Cerebral white matter agenesis

Professional guidelines

PubMed

Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder.
Wozniak JR, Riley EP, Charness ME
Lancet Neurol 2019 Aug;18(8):760-770. Epub 2019 May 31 doi: 10.1016/S1474-4422(19)30150-4. PMID: 31160204Free PMC Article
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Diffusely abnormal white matter in multiple sclerosis.
Cairns J, Vavasour IM, Traboulsee A, Carruthers R, Kolind SH, Li DKB, Moore GRW, Laule C
J Neuroimaging 2022 Jan;32(1):5-16. Epub 2021 Nov 9 doi: 10.1111/jon.12945. PMID: 34752664
White Matter-Based Structural Brain Network of Major Depression.
Chen T, Chen Z, Gong Q
Adv Exp Med Biol 2021;1305:35-55. doi: 10.1007/978-981-33-6044-0_3. PMID: 33834393
White matter injury and neurodevelopmental disabilities: A cross-disease (dis)connection.
Cainelli E, Arrigoni F, Vedovelli L
Prog Neurobiol 2020 Oct;193:101845. Epub 2020 Jun 4 doi: 10.1016/j.pneurobio.2020.101845. PMID: 32505757
The atypical social brain network in autism: advances in structural and functional MRI studies.
Sato W, Uono S
Curr Opin Neurol 2019 Aug;32(4):617-621. doi: 10.1097/WCO.0000000000000713. PMID: 31135458
White matter changes in Alzheimer's disease: a focus on myelin and oligodendrocytes.
Nasrabady SE, Rizvi B, Goldman JE, Brickman AM
Acta Neuropathol Commun 2018 Mar 2;6(1):22. doi: 10.1186/s40478-018-0515-3. PMID: 29499767Free PMC Article

Diagnosis

White matter injury and neurodevelopmental disabilities: A cross-disease (dis)connection.
Cainelli E, Arrigoni F, Vedovelli L
Prog Neurobiol 2020 Oct;193:101845. Epub 2020 Jun 4 doi: 10.1016/j.pneurobio.2020.101845. PMID: 32505757
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
White-matter commissures: a clinically focused anatomical review.
Lavrador JP, Ferreira V, Lourenço M, Alexandre I, Rocha M, Oliveira E, Kailaya-Vasan A, Neto L
Surg Radiol Anat 2019 Jun;41(6):613-624. Epub 2019 May 22 doi: 10.1007/s00276-019-02218-7. PMID: 31119409
Structural MRI in Idiopathic Parkinson's Disease.
De Micco R, Russo A, Tessitore A
Int Rev Neurobiol 2018;141:405-438. Epub 2018 Sep 19 doi: 10.1016/bs.irn.2018.08.011. PMID: 30314605
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521

Therapy

White-matter free-water diffusion MRI in schizophrenia: a systematic review and meta-analysis.
Carreira Figueiredo I, Borgan F, Pasternak O, Turkheimer FE, Howes OD
Neuropsychopharmacology 2022 Jun;47(7):1413-1420. Epub 2022 Jan 15 doi: 10.1038/s41386-022-01272-x. PMID: 35034098Free PMC Article
Normalization of Cerebral Blood Flow, Neurochemicals, and White Matter Integrity after Kidney Transplantation.
Lepping RJ, Montgomery RN, Sharma P, Mahnken JD, Vidoni ED, Choi IY, Sarnak MJ, Brooks WM, Burns JM, Gupta A
J Am Soc Nephrol 2021 Jan;32(1):177-187. Epub 2020 Oct 16 doi: 10.1681/ASN.2020050584. PMID: 33067382Free PMC Article
Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Subacute sclerosing panencephalitis.
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Exercise effects on depression: Possible neural mechanisms.
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article

Prognosis

Posterior reversible encephalopathy syndrome (PRES): presentation, diagnosis and treatment.
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Advances in migraine neuroimaging and clinical utility: from the MRI to the bedside.
Russo A, Silvestro M, Tessitore A, Tedeschi G
Expert Rev Neurother 2018 Jul;18(7):533-544. Epub 2018 Jun 25 doi: 10.1080/14737175.2018.1486708. PMID: 29883214
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521
Neurodevelopmental and neurodegenerative models of schizophrenia: white matter at the center stage.
Kochunov P, Hong LE
Schizophr Bull 2014 Jul;40(4):721-8. Epub 2014 May 27 doi: 10.1093/schbul/sbu070. PMID: 24870447Free PMC Article

Clinical prediction guides

Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Diffusely abnormal white matter in multiple sclerosis.
Cairns J, Vavasour IM, Traboulsee A, Carruthers R, Kolind SH, Li DKB, Moore GRW, Laule C
J Neuroimaging 2022 Jan;32(1):5-16. Epub 2021 Nov 9 doi: 10.1111/jon.12945. PMID: 34752664
Preterm white matter injury: ultrasound diagnosis and classification.
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
The pathology and pathophysiology of vascular dementia.
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521
Clinical neuroimaging in the preterm infant: Diagnosis and prognosis.
Hinojosa-Rodríguez M, Harmony T, Carrillo-Prado C, Van Horn JD, Irimia A, Torgerson C, Jacokes Z
Neuroimage Clin 2017;16:355-368. Epub 2017 Aug 14 doi: 10.1016/j.nicl.2017.08.015. PMID: 28861337Free PMC Article

Recent systematic reviews

Transdiagnostic role of glutamate and white matter damage in neuropsychiatric disorders: A Systematic Review.
Luttenbacher I, Phillips A, Kazemi R, Hadipour AL, Sanghvi I, Martinez J, Adamson MM
J Psychiatr Res 2022 Mar;147:324-348. Epub 2021 Dec 28 doi: 10.1016/j.jpsychires.2021.12.042. PMID: 35151030
White-matter free-water diffusion MRI in schizophrenia: a systematic review and meta-analysis.
Carreira Figueiredo I, Borgan F, Pasternak O, Turkheimer FE, Howes OD
Neuropsychopharmacology 2022 Jun;47(7):1413-1420. Epub 2022 Jan 15 doi: 10.1038/s41386-022-01272-x. PMID: 35034098Free PMC Article
White Matter Diffusion Abnormalities in Carotid Artery Disease: A Systematic Review and Meta-Analysis.
Baradaran H, Mtui EE, Richardson JE, Delgado D, Dunning A, Marshall RS, Sanelli PC, Gupta A
J Neuroimaging 2016 Sep;26(5):481-8. Epub 2016 Apr 15 doi: 10.1111/jon.12347. PMID: 27079165
Drawing connections between white matter and numerical and mathematical cognition: a literature review.
Matejko AA, Ansari D
Neurosci Biobehav Rev 2015 Jan;48:35-52. Epub 2014 Nov 15 doi: 10.1016/j.neubiorev.2014.11.006. PMID: 25446952
Neuroinflammation and white matter pathology in schizophrenia: systematic review.
Najjar S, Pearlman DM
Schizophr Res 2015 Jan;161(1):102-12. Epub 2014 Jun 16 doi: 10.1016/j.schres.2014.04.041. PMID: 24948485

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...