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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

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
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

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
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE
Cell 2014 Jul 17;158(2):263-276. Epub 2014 Jul 3 doi: 10.1016/j.cell.2014.06.017. PMID: 24998929Free PMC Article
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.
Alkan O, Kizilkilic O, Yildirim T
Cerebellum 2009 Sep;8(3):355-65. Epub 2009 Apr 1 doi: 10.1007/s12311-009-0104-x. PMID: 19337779
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
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
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
Doherty D, Millen KJ, Barkovich AJ
Lancet Neurol 2013 Apr;12(4):381-93. Epub 2013 Mar 18 doi: 10.1016/S1474-4422(13)70024-3. PMID: 23518331Free PMC Article

Therapy

Role of platelet in Parkinson's disease: Insights into pathophysiology & theranostic solutions.
Beura SK, Panigrahi AR, Yadav P, Singh SK
Ageing Res Rev 2022 Sep;80:101681. Epub 2022 Jul 4 doi: 10.1016/j.arr.2022.101681. PMID: 35798236
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
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
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.
Alkan O, Kizilkilic O, Yildirim T
Cerebellum 2009 Sep;8(3):355-65. Epub 2009 Apr 1 doi: 10.1007/s12311-009-0104-x. PMID: 19337779
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
Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Parisi MA, Dobyns WB
Mol Genet Metab 2003 Sep-Oct;80(1-2):36-53. doi: 10.1016/j.ymgme.2003.08.010. PMID: 14567956

Clinical prediction guides

Neuroimaging Findings in Moebius Sequence.
Herrera DA, Ruge NO, Florez MM, Vargas SA, Ochoa-Escudero M, Castillo M
AJNR Am J Neuroradiol 2019 May;40(5):862-865. Epub 2019 Apr 4 doi: 10.3174/ajnr.A6028. PMID: 30948378Free PMC Article
Patient-Specific iPSC-Derived Astrocytes Contribute to Non-Cell-Autonomous Neurodegeneration in Parkinson's Disease.
di Domenico A, Carola G, Calatayud C, Pons-Espinal M, Muñoz JP, Richaud-Patin Y, Fernandez-Carasa I, Gut M, Faella A, Parameswaran J, Soriano J, Ferrer I, Tolosa E, Zorzano A, Cuervo AM, Raya A, Consiglio A
Stem Cell Reports 2019 Feb 12;12(2):213-229. Epub 2019 Jan 10 doi: 10.1016/j.stemcr.2018.12.011. PMID: 30639209Free PMC Article
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
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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