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Hypoplasia of the midbrain

MedGen UID:
1814400
•Concept ID:
C5676836
•
Congenital Abnormality
Synonyms: Hypoplasia of the mesencephalon; Hypoplastic mesencephalon
 
HPO: HP:0034259

Definition

A developmental defect characterized by underdevelopment of the mesencephalon. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the midbrain

Conditions with this feature

Cerebellar-facial-dental syndrome
MedGen UID:
863932
•Concept ID:
C4015495
•
Disease or Syndrome
Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).
See: Condition Record
Cerebellar-facial-dental syndrome

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
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R
Sci Transl Med 2020 Sep 9;12(560) doi: 10.1126/scitranslmed.aau3960. PMID: 32908004

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
The role of the locus coeruleus/norepinephrine system in the pathogenesis of neurodegenerative disorders: An update.
Malatt C, Tagliati M
Curr Opin Neurol 2022 Apr 1;35(2):220-229. doi: 10.1097/WCO.0000000000001042. PMID: 35175974
Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM
Neuropediatrics 2022 Jun;53(3):195-199. Epub 2021 Oct 21 doi: 10.1055/s-0041-1732310. PMID: 34674207
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
A review of addiction.
Clay SW, Allen J, Parran T
Postgrad Med 2008 Jul 31;120(2):E01-7. doi: 10.3810/pgm.2008.07.1802. PMID: 18654058

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
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
Eye movement abnormalities.
Moncayo J, Bogousslavsky J
Front Neurol Neurosci 2012;30:13-6. Epub 2012 Feb 14 doi: 10.1159/000333375. PMID: 22377853
A review of addiction.
Clay SW, Allen J, Parran T
Postgrad Med 2008 Jul 31;120(2):E01-7. doi: 10.3810/pgm.2008.07.1802. PMID: 18654058

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
Demystifying the Neuroprotective Role of Neuropeptides in Parkinson's Disease: A Newfangled and Eloquent Therapeutic Perspective.
Behl T, Madaan P, Sehgal A, Singh S, Makeen HA, Albratty M, Alhazmi HA, Meraya AM, Bungau S
Int J Mol Sci 2022 Apr 20;23(9) doi: 10.3390/ijms23094565. PMID: 35562956Free 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
Synaptic plasticity and levodopa-induced dyskinesia: electrophysiological and structural abnormalities.
Picconi B, De Leonibus E, Calabresi P
J Neural Transm (Vienna) 2018 Aug;125(8):1263-1271. Epub 2018 Feb 28 doi: 10.1007/s00702-018-1864-6. PMID: 29492662
A Dopamine Hypothesis of Autism Spectrum Disorder.
Pavăl D
Dev Neurosci 2017;39(5):355-360. Epub 2017 Jul 28 doi: 10.1159/000478725. PMID: 28750400

Prognosis

Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM
Neuropediatrics 2022 Jun;53(3):195-199. Epub 2021 Oct 21 doi: 10.1055/s-0041-1732310. PMID: 34674207
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
A Dopamine Hypothesis of Autism Spectrum Disorder.
Pavăl D
Dev Neurosci 2017;39(5):355-360. Epub 2017 Jul 28 doi: 10.1159/000478725. PMID: 28750400
Toward a biosignature for suicide.
Oquendo MA, Sullivan GM, Sudol K, Baca-Garcia E, Stanley BH, Sublette ME, Mann JJ
Am J Psychiatry 2014 Dec 1;171(12):1259-77. Epub 2014 Oct 31 doi: 10.1176/appi.ajp.2014.14020194. PMID: 25263730Free 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

Clinical prediction guides

Brainstem Biomarkers of Clinical Variant and Pathology in Progressive Supranuclear Palsy.
Grijalva RM, Pham NTT, Huang Q, Martin PR, Ali F, Clark HM, Duffy JR, Utianski RL, Botha H, Machulda MM, Weigand SD, Ahlskog JE, Dickson DW, Josephs KA, Whitwell JL
Mov Disord 2022 Apr;37(4):702-712. Epub 2021 Dec 31 doi: 10.1002/mds.28901. PMID: 34970796Free PMC Article
Neuro-Ophthalmic Manifestations of Intracranial Malignancies.
Dermarkarian CR, Kini AT, Al Othman BA, Lee AG
J Neuroophthalmol 2020 Sep;40(3):e31-e48. doi: 10.1097/WNO.0000000000000950. PMID: 32282510
Ocular Motor Dysfunction Due to Brainstem Disorders.
Lee SH, Kim HJ, Kim JS
J Neuroophthalmol 2018 Sep;38(3):393-412. doi: 10.1097/WNO.0000000000000583. PMID: 29099407
Toward a biosignature for suicide.
Oquendo MA, Sullivan GM, Sudol K, Baca-Garcia E, Stanley BH, Sublette ME, Mann JJ
Am J Psychiatry 2014 Dec 1;171(12):1259-77. Epub 2014 Oct 31 doi: 10.1176/appi.ajp.2014.14020194. PMID: 25263730Free PMC Article
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

Recent systematic reviews

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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