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Agenesis of the anterior commissure

MedGen UID:
340690
•Concept ID:
C1851087
•
Finding
HPO: HP:0030302

Definition

Absence of the anterior commissure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAgenesis of the anterior commissure

Professional guidelines

PubMed

Masses and malformations of the third ventricle: normal anatomic relationships and differential diagnoses.
Glastonbury CM, Osborn AG, Salzman KL
Radiographics 2011 Nov-Dec;31(7):1889-905. doi: 10.1148/rg.317115083. PMID: 22084178
Frontal white matter microstructure and treatment response of late-life depression: a preliminary study.
Alexopoulos GS, Kiosses DN, Choi SJ, Murphy CF, Lim KO
Am J Psychiatry 2002 Nov;159(11):1929-32. doi: 10.1176/appi.ajp.159.11.1929. PMID: 12411231

Recent clinical studies

Etiology

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Neurobiological underpinnings of bipolar disorder focusing on findings of diffusion tensor imaging: a systematic review.
Duarte JA, de Araújo E Silva JQ, Goldani AA, Massuda R, Gama CS
Braz J Psychiatry 2016 Mar 22;38(2):167-75. doi: 10.1590/1516-4446-2015-1793. PMID: 27007148Free PMC Article
Structure and function of the tricuspid and bicuspid regurgitant aortic valve: an echocardiographic study.
Rönnerfalk M, Tamás É
Interact Cardiovasc Thorac Surg 2015 Jul;21(1):71-6. Epub 2015 Apr 2 doi: 10.1093/icvts/ivv072. PMID: 25840434
Cheek fistula from the ectopic salivary gland: a variant of the oculo-auriculo-vertebral spectrum.
Sun ZP, Hong X, Ma XC, Zhang ZY, Yu GY
Laryngoscope 2015 Feb;125(2):360-4. Epub 2014 Jul 30 doi: 10.1002/lary.24859. PMID: 25073964
The old and the new: supratentorial MR findings in Chiari II malformation.
Miller E, Widjaja E, Blaser S, Dennis M, Raybaud C
Childs Nerv Syst 2008 May;24(5):563-75. Epub 2007 Nov 20 doi: 10.1007/s00381-007-0528-x. PMID: 18026960

Diagnosis

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
White-matter commissures: a clinically focused anatomical review.
Lavrador JP, Ferreira V, Lourenço M, Alexandre I, Rocha M, Oliveira E, Kailaya-Vasan A, Neto L
Surg Radiol Anat 2019 Jun;41(6):613-624. Epub 2019 May 22 doi: 10.1007/s00276-019-02218-7. PMID: 31119409
Structure and function of the tricuspid and bicuspid regurgitant aortic valve: an echocardiographic study.
Rönnerfalk M, Tamás É
Interact Cardiovasc Thorac Surg 2015 Jul;21(1):71-6. Epub 2015 Apr 2 doi: 10.1093/icvts/ivv072. PMID: 25840434
The anterior laryngeal webs.
Nicollas R, Triglia JM
Otolaryngol Clin North Am 2008 Oct;41(5):877-88, viii. doi: 10.1016/j.otc.2008.04.008. PMID: 18775339
The role of the anterior commissure in callosal agenesis.
Barr MS, Corballis MC
Neuropsychology 2002 Oct;16(4):459-71. PMID: 12382985

Therapy

Specific tractography differences in autism compared to developmental coordination disorder.
Kilroy E, Gerbella M, Cao L, Molfese P, Butera C, Harrison L, Jayashankar A, Rizzolatti G, Aziz-Zadeh L
Sci Rep 2022 Nov 14;12(1):19246. doi: 10.1038/s41598-022-21538-0. PMID: 36376319Free PMC Article
Variability of Forebrain Commissures in Callosal Agenesis: A Prenatal MR Imaging Study.
Cesaretti C, Nanni M, Ghi T, Parazzini C, Conte G, Contro E, Grisolia G, Righini A
AJNR Am J Neuroradiol 2016 Mar;37(3):521-7. Epub 2015 Oct 29 doi: 10.3174/ajnr.A4570. PMID: 26514610Free PMC Article
Generalized tonic-clonic seizures: aberrant interhemispheric functional and anatomical connectivity.
Ji GJ, Zhang Z, Xu Q, Zang YF, Liao W, Lu G
Radiology 2014 Jun;271(3):839-47. Epub 2014 Mar 1 doi: 10.1148/radiol.13131638. PMID: 24588676
Pontine encephalocele and abnormalities of the posterior fossa following transclival endoscopic endonasal surgery.
Koutourousiou M, Filho FV, Costacou T, Fernandez-Miranda JC, Wang EW, Snyderman CH, Rothfus WE, Gardner PA
J Neurosurg 2014 Aug;121(2):359-66. Epub 2014 Feb 7 doi: 10.3171/2013.12.JNS13756. PMID: 24506240
Interhemispheric Stroop effects in partial and complete agenesis of the corpus callosum.
Brown WS, Thrasher ED, Paul LK
J Int Neuropsychol Soc 2001 Mar;7(3):302-11. doi: 10.1017/s1355617701733048. PMID: 11311031

Prognosis

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
The evolution, formation and connectivity of the anterior commissure.
Fenlon LR, Suarez R, Lynton Z, Richards LJ
Semin Cell Dev Biol 2021 Oct;118:50-59. Epub 2021 May 3 doi: 10.1016/j.semcdb.2021.04.009. PMID: 33958283
Morphologic variability of the mitral valve leaflets.
Krawczyk-Ożóg A, Hołda MK, Sorysz D, Koziej M, Siudak Z, Dudek D, Klimek-Piotrowska W
J Thorac Cardiovasc Surg 2017 Dec;154(6):1927-1935. Epub 2017 Aug 16 doi: 10.1016/j.jtcvs.2017.07.067. PMID: 28893395
Structure and function of the tricuspid and bicuspid regurgitant aortic valve: an echocardiographic study.
Rönnerfalk M, Tamás É
Interact Cardiovasc Thorac Surg 2015 Jul;21(1):71-6. Epub 2015 Apr 2 doi: 10.1093/icvts/ivv072. PMID: 25840434
The old and the new: supratentorial MR findings in Chiari II malformation.
Miller E, Widjaja E, Blaser S, Dennis M, Raybaud C
Childs Nerv Syst 2008 May;24(5):563-75. Epub 2007 Nov 20 doi: 10.1007/s00381-007-0528-x. PMID: 18026960

Clinical prediction guides

Brain functional connectivity in individuals with callosotomy and agenesis of the corpus callosum: A systematic review.
Mancuso L, Uddin LQ, Nani A, Costa T, Cauda F
Neurosci Biobehav Rev 2019 Oct;105:231-248. Epub 2019 Aug 11 doi: 10.1016/j.neubiorev.2019.07.004. PMID: 31412269
Tubulin genes and malformations of cortical development.
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD
Eur J Med Genet 2018 Dec;61(12):744-754. Epub 2018 Jul 17 doi: 10.1016/j.ejmg.2018.07.012. PMID: 30016746
Structure and function of the tricuspid and bicuspid regurgitant aortic valve: an echocardiographic study.
Rönnerfalk M, Tamás É
Interact Cardiovasc Thorac Surg 2015 Jul;21(1):71-6. Epub 2015 Apr 2 doi: 10.1093/icvts/ivv072. PMID: 25840434
Cheek fistula from the ectopic salivary gland: a variant of the oculo-auriculo-vertebral spectrum.
Sun ZP, Hong X, Ma XC, Zhang ZY, Yu GY
Laryngoscope 2015 Feb;125(2):360-4. Epub 2014 Jul 30 doi: 10.1002/lary.24859. PMID: 25073964
Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
Romaniello R, Arrigoni F, Bassi MT, Borgatti R
Brain Dev 2015 Mar;37(3):273-80. Epub 2014 Jul 5 doi: 10.1016/j.braindev.2014.06.002. PMID: 25008804

Recent systematic reviews

Brain functional connectivity in individuals with callosotomy and agenesis of the corpus callosum: A systematic review.
Mancuso L, Uddin LQ, Nani A, Costa T, Cauda F
Neurosci Biobehav Rev 2019 Oct;105:231-248. Epub 2019 Aug 11 doi: 10.1016/j.neubiorev.2019.07.004. PMID: 31412269
Neurobiological underpinnings of bipolar disorder focusing on findings of diffusion tensor imaging: a systematic review.
Duarte JA, de Araújo E Silva JQ, Goldani AA, Massuda R, Gama CS
Braz J Psychiatry 2016 Mar 22;38(2):167-75. doi: 10.1590/1516-4446-2015-1793. PMID: 27007148Free PMC Article

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