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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

White matter abnormalities in 15 subjects with SPG76.
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R
J Neurol 2023 Dec;270(12):5784-5792. Epub 2023 Aug 14 doi: 10.1007/s00415-023-11918-5. PMID: 37578488
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
Infantile status epilepticus disrupts myelin development.
Bencurova P, Laakso H, Salo RA, Paasonen E, Manninen E, Paasonen J, Michaeli S, Mangia S, Bares M, Brazdil M, Kubova H, Gröhn O
Neurobiol Dis 2022 Jan;162:105566. Epub 2021 Nov 24 doi: 10.1016/j.nbd.2021.105566. PMID: 34838665Free PMC Article
White matter abnormalities in misophonia.
Eijsker N, Schröder A, Liebrand LC, Smit DJA, van Wingen G, Denys D
Neuroimage Clin 2021;32:102787. Epub 2021 Aug 21 doi: 10.1016/j.nicl.2021.102787. PMID: 34461433Free PMC Article
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

Diagnosis

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
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
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

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
Quantitative neuroimaging in mucopolysaccharidoses clinical trials.
Nestrasil I, Vedolin L
Mol Genet Metab 2017 Dec;122S:17-24. Epub 2017 Sep 15 doi: 10.1016/j.ymgme.2017.09.006. PMID: 29111092
AUTISM IN REVIEW.
Khalifeh S, Yassin W, Kourtian S, Boustany RM
J Med Liban 2016 Aug;64(2):110-115. PMID: 30452150

Prognosis

A White Matter Connection of Schizophrenia and Alzheimer's Disease.
Kochunov P, Zavaliangos-Petropulu A, Jahanshad N, Thompson PM, Ryan MC, Chiappelli J, Chen S, Du X, Hatch K, Adhikari B, Sampath H, Hare S, Kvarta M, Goldwaser E, Yang F, Olvera RL, Fox PT, Curran JE, Blangero J, Glahn DC, Tan Y, Hong LE
Schizophr Bull 2021 Jan 23;47(1):197-206. doi: 10.1093/schbul/sbaa078. PMID: 32681179Free 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
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
AUTISM IN REVIEW.
Khalifeh S, Yassin W, Kourtian S, Boustany RM
J Med Liban 2016 Aug;64(2):110-115. PMID: 30452150

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
Infantile status epilepticus disrupts myelin development.
Bencurova P, Laakso H, Salo RA, Paasonen E, Manninen E, Paasonen J, Michaeli S, Mangia S, Bares M, Brazdil M, Kubova H, Gröhn O
Neurobiol Dis 2022 Jan;162:105566. Epub 2021 Nov 24 doi: 10.1016/j.nbd.2021.105566. PMID: 34838665Free PMC Article
Shared and distinct white matter abnormalities in schizophrenia and bipolar disorder.
Joo SW, Kim H, Jo YT, Yoon W, Kim Y, Lee J
Prog Neuropsychopharmacol Biol Psychiatry 2021 Jun 8;108:110175. Epub 2020 Nov 12 doi: 10.1016/j.pnpbp.2020.110175. PMID: 33188830
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

Recent systematic reviews

Prevalence of Neuroradiological Abnormalities in First-Episode Psychosis: A Systematic Review and Meta-analysis.
Blackman G, Neri G, Al-Doori O, Teixeira-Dias M, Mazumder A, Pollak TA, Hird EJ, Koutsouleris N, Bell V, Kempton MJ, McGuire P
JAMA Psychiatry 2023 Oct 1;80(10):1047-1054. doi: 10.1001/jamapsychiatry.2023.2225. PMID: 37436735Free PMC Article
Abnormal white matter changes in Alzheimer's disease based on diffusion tensor imaging: A systematic review.
Chen Y, Wang Y, Song Z, Fan Y, Gao T, Tang X
Ageing Res Rev 2023 Jun;87:101911. Epub 2023 Mar 15 doi: 10.1016/j.arr.2023.101911. PMID: 36931328
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

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