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Absent mesencephalon

MedGen UID:: 870467
•Concept ID:: C4024913
•: Anatomical Abnormality

HPO:	HP:0007265

Definition

Agenesis of the midbrain. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent mesencephalon

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Morphological central nervous system abnormality
    - Abnormal brain morphology
      - Abnormal midbrain morphology
        Aplasia/Hypoplasia of the midbrain
        Absent mesencephalon

Conditions with this feature

Aprosencephaly cerebellar dysgenesis

MedGen UID:: 330459
•Concept ID:: C1832412
•: Disease or Syndrome

A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.

See: Condition Record

Aprosencephaly cerebellar dysgenesis

Professional guidelines

PubMed

LRRK2 activity does not dramatically alter α-synuclein pathology in primary neurons.

Henderson MX, Peng C, Trojanowski JQ, Lee VMY
Acta Neuropathol Commun 2018 May 31;6(1):45. doi: 10.1186/s40478-018-0550-0. PMID: 29855356 Free PMC Article

Differences in evoked potential characteristics between DRPLA patients and patients with progressive myoclonic epilepsy: preliminary findings indicating usefulness for differential diagnosis.

Kasai K, Onuma T, Kato M, Kato T, Takeya J, Sekimoto M, Watanabe K, Minami N, Goto Y, Minabe Y
Epilepsy Res 1999 Oct;37(1):3-11. doi: 10.1016/s0920-1211(99)00028-5. PMID: 10515170

See all (2)

Recent clinical studies

Etiology

Simple quantitative planimetric measurement of nigrosome-1 for clinical settings.

Chau MT, Agzarian M, Wilcox RA, Dwyer A, Bezak E, Todd G
J Neurol Sci 2023 Nov 15;454:120857. Epub 2023 Oct 29 doi: 10.1016/j.jns.2023.120857. PMID: 37939625

Dorsal Midbrain Syndrome: Clinical and Imaging Features in 75 Cases.

Yousif JE, Liao E, Trobe JD
J Neuroophthalmol 2021 Dec 1;41(4):e644-e654. doi: 10.1097/WNO.0000000000001052. PMID: 32868578

CD8 T cell nigral infiltration precedes synucleinopathy in early stages of Parkinson's disease.

Galiano-Landeira J, Torra A, Vila M, Bové J
Brain 2020 Dec 1;143(12):3717-3733. doi: 10.1093/brain/awaa269. PMID: 33118032

Cerebellar, limbic, and midbrain volume alterations in sudden unexpected death in epilepsy.

Allen LA, Vos SB, Kumar R, Ogren JA, Harper RK, Winston GP, Balestrini S, Wandschneider B, Scott CA, Ourselin S, Duncan JS, Lhatoo SD, Harper RM, Diehl B
Epilepsia 2019 Apr;60(4):718-729. Epub 2019 Mar 14 doi: 10.1111/epi.14689. PMID: 30868560 Free PMC Article

The pimple sign of progressive supranuclear palsy syndrome.

Botha H, Whitwell JL, Madhaven A, Senjem ML, Lowe V, Josephs KA
Parkinsonism Relat Disord 2014 Feb;20(2):180-5. Epub 2013 Nov 4 doi: 10.1016/j.parkreldis.2013.10.023. PMID: 24252300

See all (44)

Diagnosis

Motor Progression and Nigrostriatal Neurodegeneration in Parkinson Disease.

Furukawa K, Shima A, Kambe D, Nishida A, Wada I, Sakamaki H, Yoshimura K, Terada Y, Sakato Y, Mitsuhashi M, Sawamura M, Nakanishi E, Taruno Y, Yamakado H, Fushimi Y, Okada T, Nakamoto Y, Takahashi R, Sawamoto N
Ann Neurol 2022 Jul;92(1):110-121. Epub 2022 May 2 doi: 10.1002/ana.26373. PMID: 35428994

Dorsal Midbrain Syndrome: Clinical and Imaging Features in 75 Cases.

Yousif JE, Liao E, Trobe JD
J Neuroophthalmol 2021 Dec 1;41(4):e644-e654. doi: 10.1097/WNO.0000000000001052. PMID: 32868578

Hooked on benzodiazepines: GABAA receptor subtypes and addiction.

Tan KR, Rudolph U, Lüscher C
Trends Neurosci 2011 Apr;34(4):188-97. Epub 2011 Feb 25 doi: 10.1016/j.tins.2011.01.004. PMID: 21353710 Free PMC Article

Clinical features, diagnosis, and imaging of parkinsonian syndromes.

Poewe W
Curr Opin Neurol Neurosurg 1993 Jun;6(3):333-8. PMID: 8507902

Vascular pseudoparkinsonism.

Chang CM, Yu YL, Ng HK, Leung SY, Fong KY
Acta Neurol Scand 1992 Dec;86(6):588-92. doi: 10.1111/j.1600-0404.1992.tb05492.x. PMID: 1481645

See all (57)

Therapy

Low plasma serotonin linked to higher nigral iron in Parkinson's disease.

Jellen LC, Lewis MM, Du G, Wang X, Galvis MLE, Krzyzanowski S, Capan CD, Snyder AM, Connor JR, Kong L, Mailman RB, Brundin P, Brundin L, Huang X
Sci Rep 2021 Dec 21;11(1):24384. doi: 10.1038/s41598-021-03700-2. PMID: 34934078 Free PMC Article

Central nervous system pathology in the amniotic rupture sequence.

Shannon P
Clin Neuropathol 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. PMID: 32589127

Hooked on benzodiazepines: GABAA receptor subtypes and addiction.

Tan KR, Rudolph U, Lüscher C
Trends Neurosci 2011 Apr;34(4):188-97. Epub 2011 Feb 25 doi: 10.1016/j.tins.2011.01.004. PMID: 21353710 Free PMC Article

Clinical features, diagnosis, and imaging of parkinsonian syndromes.

Poewe W
Curr Opin Neurol Neurosurg 1993 Jun;6(3):333-8. PMID: 8507902

The development of analgesic, pro- and anti-convulsant opiate effects in the rat.

Van Praag H, Falcon M, Guendelman D, Frenk H
Ann Ist Super Sanita 1993;29(3):419-29. PMID: 8172461

See all (21)

Prognosis

Determining the Degree of Dopaminergic Denervation Based on the Loss of Nigral Hyperintensity on SMWI in Parkinsonism.

Bae YJ, Song YS, Kim JM, Choi BS, Nam Y, Choi JH, Lee WW, Kim JH
AJNR Am J Neuroradiol 2021 Apr;42(4):681-687. Epub 2021 Jan 28 doi: 10.3174/ajnr.A6960. PMID: 33509919 Free PMC Article

Calbindin-D(28K), parvalbumin, and calretinin in young and aged human locus coeruleus.

Lamerand S, Shahidehpour R, Ayala I, Gefen T, Mesulam MM, Bigio E, Geula C
Neurobiol Aging 2020 Oct;94:243-249. Epub 2020 Jun 15 doi: 10.1016/j.neurobiolaging.2020.06.006. PMID: 32663717 Free PMC Article

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. PMID: 22451504 Free PMC Article

Clinical correlates of cerebral water diffusion in Wilson disease.

Favrole P, Chabriat H, Guichard JP, Woimant F
Neurology 2006 Feb 14;66(3):384-9. doi: 10.1212/01.wnl.0000196482.71636.7d. PMID: 16476937

Vascular pseudoparkinsonism.

Chang CM, Yu YL, Ng HK, Leung SY, Fong KY
Acta Neurol Scand 1992 Dec;86(6):588-92. doi: 10.1111/j.1600-0404.1992.tb05492.x. PMID: 1481645

See all (24)

Clinical prediction guides

CD8 T cell nigral infiltration precedes synucleinopathy in early stages of Parkinson's disease.

Galiano-Landeira J, Torra A, Vila M, Bové J
Brain 2020 Dec 1;143(12):3717-3733. doi: 10.1093/brain/awaa269. PMID: 33118032

Pathology of the Superior Colliculus in Chronic Traumatic Encephalopathy.

Armstrong RA, McKee AC, Cairns NJ
Optom Vis Sci 2017 Jan;94(1):33-42. doi: 10.1097/OPX.0000000000000911. PMID: 27391531

Tongue somatosensory evoked potentials reflect midbrain involvement in patients with clinically isolated syndrome.

Krbot Skorić M, Adamec I, Crnošija L, Gabelić T, Barun B, Zadro I, Butković Soldo S, Habek M
Croat Med J 2016 Dec 31;57(6):558-565. doi: 10.3325/cmj.2016.57.558. PMID: 28051280 Free PMC Article

Hooked on benzodiazepines: GABAA receptor subtypes and addiction.

Tan KR, Rudolph U, Lüscher C
Trends Neurosci 2011 Apr;34(4):188-97. Epub 2011 Feb 25 doi: 10.1016/j.tins.2011.01.004. PMID: 21353710 Free PMC Article

Clinical correlates of cerebral water diffusion in Wilson disease.

Favrole P, Chabriat H, Guichard JP, Woimant F
Neurology 2006 Feb 14;66(3):384-9. doi: 10.1212/01.wnl.0000196482.71636.7d. PMID: 16476937

See all (48)