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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 X-linked hydrocephalus: The "hydrocephalus" is the focus.
Chen F, Li DZ
Taiwan J Obstet Gynecol 2023 Mar;62(2):380-381. doi: 10.1016/j.tjog.2022.08.019. PMID: 36965918
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

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
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
The dynamic fetal brain.
Towner D, McGahan J, Rhee-Morris L, Gerscovich E
J Clin Ultrasound 2007 Jun;35(5):238-44. doi: 10.1002/jcu.20320. PMID: 17410587

Diagnosis

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
The ocular manifestations of multiple sclerosis. 2. Abnormalities of eye movements.
Barnes D, McDonald WI
J Neurol Neurosurg Psychiatry 1992 Oct;55(10):863-8. doi: 10.1136/jnnp.55.10.863. PMID: 1431948Free PMC Article

Therapy

The excitatory-inhibitory balance as a target for the development of novel drugs to treat schizophrenia.
Uliana DL, Lisboa JRF, Gomes FV, Grace AA
Biochem Pharmacol 2024 Oct;228:116298. Epub 2024 May 21 doi: 10.1016/j.bcp.2024.116298. PMID: 38782077Free PMC Article
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
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
The dynamic fetal brain.
Towner D, McGahan J, Rhee-Morris L, Gerscovich E
J Clin Ultrasound 2007 Jun;35(5):238-44. doi: 10.1002/jcu.20320. PMID: 17410587
Thalamic haemorrhage.
Chung CS, Caplan LR, Han W, Pessin MS, Lee KH, Kim JM
Brain 1996 Dec;119 ( Pt 6):1873-86. doi: 10.1093/brain/119.6.1873. PMID: 9009994

Clinical prediction guides

The excitatory-inhibitory balance as a target for the development of novel drugs to treat schizophrenia.
Uliana DL, Lisboa JRF, Gomes FV, Grace AA
Biochem Pharmacol 2024 Oct;228:116298. Epub 2024 May 21 doi: 10.1016/j.bcp.2024.116298. PMID: 38782077Free PMC Article
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. PMID: 37951597Free PMC Article
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
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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