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Agenesis of cerebral white matter

MedGen UID:
347986
•Concept ID:
C1859969
•
Finding; Pathologic Function
Synonym: Cerebral white matter agenesis
 
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
Agenesis of cerebral white matter
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  
  • CROGVAgenesis of cerebral white matter

Conditions with this feature

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

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

Association between childhood trauma and white matter deficits in first-episode schizophrenia.
Xie M, Cai J, Liu Y, Wei W, Zhao Z, Dai M, Wu Y, Huang Y, Tang Y, Xiao L, Zhang G, Li C, Guo W, Ma X, Deng W, Du X, Wang Q, Li T
Psychiatry Res 2023 May;323:115111. Epub 2023 Mar 3 doi: 10.1016/j.psychres.2023.115111. PMID: 36924585
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-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

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-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
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

Therapy

Reproducible Abnormalities and Diagnostic Generalizability of White Matter in Alzheimer's Disease.
Qu Y, Wang P, Yao H, Wang D, Song C, Yang H, Zhang Z, Chen P, Kang X, Du K, Fan L, Zhou B, Han T, Yu C, Zhang X, Zuo N, Jiang T, Zhou Y, Liu B, Han Y, Lu J, Liu Y; Multi-Center Alzheimer’s Disease Imaging (MCADI) Consortium
Neurosci Bull 2023 Oct;39(10):1533-1543. Epub 2023 Apr 4 doi: 10.1007/s12264-023-01041-w. PMID: 37014553Free PMC Article
Incidence of white matter lesions in hospitalized COVID-19 patients: A meta-analysis.
Rastogi A, Bhaskar SMM
Microcirculation 2022 Apr;29(3):e12749. Epub 2022 Feb 14 doi: 10.1111/micc.12749. PMID: 35124866Free 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

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
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

Association between childhood trauma and white matter deficits in first-episode schizophrenia.
Xie M, Cai J, Liu Y, Wei W, Zhao Z, Dai M, Wu Y, Huang Y, Tang Y, Xiao L, Zhang G, Li C, Guo W, Ma X, Deng W, Du X, Wang Q, Li T
Psychiatry Res 2023 May;323:115111. Epub 2023 Mar 3 doi: 10.1016/j.psychres.2023.115111. PMID: 36924585
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

Recent systematic reviews

White matter microstructural changes in internet addiction disorder: A systematic review of diffusion tensor imaging studies.
Mohammadi S, Jahanshahi A, Salehi MA, Darvishi R, Seyedmirzaei H, Luna LP
Addict Behav 2023 Aug;143:107690. Epub 2023 Mar 23 doi: 10.1016/j.addbeh.2023.107690. PMID: 36989701
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
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
The Contribution of Neuroimaging to the Understanding of Essential Tremor Pathophysiology: a Systematic Review.
Pietracupa S, Bologna M, Tommasin S, Berardelli A, Pantano P
Cerebellum 2022 Dec;21(6):1029-1051. Epub 2021 Oct 16 doi: 10.1007/s12311-021-01335-7. PMID: 34657271
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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