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Abnormal midbrain morphology

MedGen UID:
867390
•Concept ID:
C4021755
•
Anatomical Abnormality
Synonym: Abnormality of midbrain morphology
 
HPO: HP:0002418

Definition

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [from HPO]

Professional guidelines

PubMed

The vigabatrin-associated brain abnormalities on MRI and their differential diagnosis.
Corrêa DG, Telles B, Freddi TAL
Clin Radiol 2024 Feb;79(2):94-101. Epub 2023 Nov 29 doi: 10.1016/j.crad.2023.11.010. PMID: 38092645
Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.
Krajden Haratz K, Oliveira Szejnfeld P, Govindaswamy M, Leibovitz Z, Gindes L, Severino M, Rossi A, Paladini D, Garcia Rodriguez R, Ben-Sira L, Borkowski Tillman T, Gupta R, Lotem G, Raz N, Hamamoto TENK, Kidron D, Arad A, Birnbaum R, Brussilov M, Pomar L, Vial Y, Leventer RJ, McGillivray G, Fink M, Krzeszowski W, Fernandes Moron A, Lev D, Tamarkin M, Shalev J, Har Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2021 Dec;58(6):864-874. doi: 10.1002/uog.23660. PMID: 33942916
Organic psychosis: The pathobiology and treatment of delusions.
Joyce EM
CNS Neurosci Ther 2018 Jul;24(7):598-603. Epub 2018 May 15 doi: 10.1111/cns.12973. PMID: 29766653Free PMC Article

Recent clinical studies

Etiology

Mapping the neuroanatomical abnormalities in a phenotype of male compulsive rats.
Martín-González E, Prados-Pardo Á, Sawiak SJ, Dalley JW, Padro D, Ramos-Cabrer P, Mora S, Moreno-Montoya M
Behav Brain Funct 2023 Nov 6;19(1):19. doi: 10.1186/s12993-023-00221-y. PMID: 37932782Free PMC Article
Parkinson's Disease Risk and Hyperhomocysteinemia: The Possible Link.
Al-Kuraishy HM, Al-Gareeb AI, Elewa YHA, Zahran MH, Alexiou A, Papadakis M, Batiha GE
Cell Mol Neurobiol 2023 Aug;43(6):2743-2759. Epub 2023 Apr 19 doi: 10.1007/s10571-023-01350-8. PMID: 37074484Free PMC Article
Congenital Malformations of Cerebellum.
Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Tremor and Rigidity in Patients with Parkinson's Disease: Emphasis on Epidemiology, Pathophysiology and Contributing Factors.
Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Leigh's syndrome.
Mannan AA, Sharma MC, Shrivastava P, Ralte AM, Gupta V, Behari M, Sarkar C
Indian J Pediatr 2004 Nov;71(11):1029-33. doi: 10.1007/BF02828121. PMID: 15572826

Diagnosis

Congenital Malformations of Cerebellum.
Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Distribution of α-Synuclein Aggregation in the Peripheral Tissues.
Li YY, Zhou TT, Zhang Y, Chen NH, Yuan YH
Neurochem Res 2022 Dec;47(12):3627-3634. Epub 2022 Mar 28 doi: 10.1007/s11064-022-03586-0. PMID: 35348944
Tremor and Rigidity in Patients with Parkinson's Disease: Emphasis on Epidemiology, Pathophysiology and Contributing Factors.
Kumar S, Goyal L, Singh S
CNS Neurol Disord Drug Targets 2022;21(7):596-609. doi: 10.2174/1871527320666211006142100. PMID: 34620070
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Reward and aversion in a heterogeneous midbrain dopamine system.
Lammel S, Lim BK, Malenka RC
Neuropharmacology 2014 Jan;76 Pt B(0 0):351-9. Epub 2013 Apr 8 doi: 10.1016/j.neuropharm.2013.03.019. PMID: 23578393Free PMC Article

Therapy

Targeting alpha-synuclein via the immune system in Parkinson's disease: Current vaccine therapies.
Fleming SM, Davis A, Simons E
Neuropharmacology 2022 Jan 1;202:108870. Epub 2021 Nov 3 doi: 10.1016/j.neuropharm.2021.108870. PMID: 34742741Free PMC Article
The Role of the Thalamus in Post-Traumatic Stress Disorder.
Yoshii T
Int J Mol Sci 2021 Feb 9;22(4) doi: 10.3390/ijms22041730. PMID: 33572198Free PMC Article
Neuropsychological mechanism underlying antidepressant effect: a systematic meta-analysis.
Ma Y
Mol Psychiatry 2015 Mar;20(3):311-9. Epub 2014 Mar 25 doi: 10.1038/mp.2014.24. PMID: 24662929
Parkinsonism. Multiple system atrophy.
Wenning GK, Quinn NP
Baillieres Clin Neurol 1997 Apr;6(1):187-204. PMID: 9426875
Postvaccinal parkinsonism.
Alves RS, Barbosa ER, Scaff M
Mov Disord 1992;7(2):178-80. doi: 10.1002/mds.870070213. PMID: 1350062

Prognosis

Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Robust automated constellation-based landmark detection in human brain imaging.
Ghayoor A, Vaidya JG, Johnson HJ
Neuroimage 2018 Apr 15;170:471-481. Epub 2017 Apr 6 doi: 10.1016/j.neuroimage.2017.04.012. PMID: 28392490Free PMC Article
Penetrating artery territory pontine infarction.
Field TS, Benavente OR
Rev Neurol Dis 2011;8(1-2):30-8. PMID: 21769069
Leigh's syndrome.
Mannan AA, Sharma MC, Shrivastava P, Ralte AM, Gupta V, Behari M, Sarkar C
Indian J Pediatr 2004 Nov;71(11):1029-33. doi: 10.1007/BF02828121. PMID: 15572826
Stages in the development of Parkinson's disease-related pathology.
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272

Clinical prediction guides

The involvement of IRP2-induced ferroptosis through the p53-SLC7A11-ALOX12 pathway in Parkinson's disease.
Yao Z, Jia F, Wang S, Jiao Q, Du X, Chen X, Jiang H
Free Radic Biol Med 2024 Sep;222:386-396. Epub 2024 Jun 25 doi: 10.1016/j.freeradbiomed.2024.06.020. PMID: 38936518
Congenital Zika virus infection: a neuropathological review.
Chimelli L, Avvad-Portari E
Childs Nerv Syst 2018 Jan;34(1):95-99. Epub 2017 Nov 22 doi: 10.1007/s00381-017-3651-3. PMID: 29167994
Reward and aversion in a heterogeneous midbrain dopamine system.
Lammel S, Lim BK, Malenka RC
Neuropharmacology 2014 Jan;76 Pt B(0 0):351-9. Epub 2013 Apr 8 doi: 10.1016/j.neuropharm.2013.03.019. PMID: 23578393Free PMC Article
Penetrating artery territory pontine infarction.
Field TS, Benavente OR
Rev Neurol Dis 2011;8(1-2):30-8. PMID: 21769069
Stages in the development of Parkinson's disease-related pathology.
Braak H, Ghebremedhin E, Rüb U, Bratzke H, Del Tredici K
Cell Tissue Res 2004 Oct;318(1):121-34. Epub 2004 Aug 24 doi: 10.1007/s00441-004-0956-9. PMID: 15338272

Recent systematic reviews

Management strategies for pediatric patients with tectal gliomas: a systematic review.
Bauman MMJ, Bhandarkar AR, Zheng CR, Riviere-Cazaux C, Beeler CJ, Naylor RM, Daniels DJ
Neurosurg Rev 2022 Apr;45(2):1031-1039. Epub 2021 Oct 5 doi: 10.1007/s10143-021-01653-8. PMID: 34609665
MR Imaging in Spinocerebellar Ataxias: A Systematic Review.
Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB, Saute JA
AJNR Am J Neuroradiol 2016 Aug;37(8):1405-12. Epub 2016 May 12 doi: 10.3174/ajnr.A4760. PMID: 27173364Free PMC Article
Voxelwise meta-analysis of gray matter anomalies in Parkinson variant of multiple system atrophy and Parkinson's disease using anatomic likelihood estimation.
Shao N, Yang J, Shang H
Neurosci Lett 2015 Feb 5;587:79-86. Epub 2014 Dec 5 doi: 10.1016/j.neulet.2014.12.007. PMID: 25484255
Update on neuroimaging phenotypes of mid-hindbrain malformations.
Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ
Neuroradiology 2015 Feb;57(2):113-38. Epub 2014 Oct 23 doi: 10.1007/s00234-014-1431-2. PMID: 25339235

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