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Agenesis of putamen

MedGen UID:
1746902
Concept ID:
C5421687
Congenital Abnormality
HPO: HP:0041052

Definition

A developmental defect characterized by the absence of the putamen owing to its failure to develop. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Manickavasagar R, Chemmanam T, Youssef A, Agarwal A, Prentice DA, Irish AB
QJM 2022 Jun 7;115(6):359-366. doi: 10.1093/qjmed/hcab140. PMID: 34010386
Kim J, Plitman E, Iwata Y, Nakajima S, Mar W, Patel R, Chavez S, Chung JK, Caravaggio F, Chakravarty MM, Remington G, Gerretsen P, Graff-Guerrero A
Prog Neuropsychopharmacol Biol Psychiatry 2020 Apr 20;99:109839. Epub 2019 Dec 13 doi: 10.1016/j.pnpbp.2019.109839. PMID: 31843627
Algahtani H, Ghamdi S, Shirah B, Alharbi B, Algahtani R, Bazaid A
Neurol Res 2017 Feb;39(2):117-125. Epub 2016 Dec 1 doi: 10.1080/01616412.2016.1263176. PMID: 27905264

Recent clinical studies

Etiology

Pan N, Wang S, Qin K, Li L, Chen Y, Zhang X, Lai H, Suo X, Long Y, Yu Y, Ji S, Radua J, Sweeney JA, Gong Q
Biol Psychiatry Cogn Neurosci Neuroimaging 2023 Jun;8(6):640-650. Epub 2022 Jun 15 doi: 10.1016/j.bpsc.2022.06.003. PMID: 35714858
Gray JP, Müller VI, Eickhoff SB, Fox PT
Am J Psychiatry 2020 May 1;177(5):422-434. Epub 2020 Feb 26 doi: 10.1176/appi.ajp.2019.19050560. PMID: 32098488Free PMC Article
Atmaca M
Rev Recent Clin Trials 2013 Jun;8(2):124-7. doi: 10.2174/15748871113086660050. PMID: 24032545
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Caplan LR, Schmahmann JD, Kase CS, Feldmann E, Baquis G, Greenberg JP, Gorelick PB, Helgason C, Hier DB
Arch Neurol 1990 Feb;47(2):133-43. doi: 10.1001/archneur.1990.00530020029011. PMID: 2405818

Diagnosis

Huang X, Lin J, Shang H, Yang J
J Neurol 2022 Jun;269(6):2862-2873. Epub 2022 Jan 11 doi: 10.1007/s00415-022-10961-y. PMID: 35013788
Liu W, Xiao Y, Zheng T, Chen G
J Neuroimaging 2021 Mar;31(2):272-276. Epub 2020 Nov 23 doi: 10.1111/jon.12811. PMID: 33227178
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Delonlay P, Rötig A, Sarnat HB
Handb Clin Neurol 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. PMID: 23622386
Brooks DJ
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S31-3. doi: 10.1016/S1353-8020(11)70012-8. PMID: 22166447

Therapy

Koudriavtseva T, Lorenzano S, Cellerino M, Truglio M, Fiorelli M, Lapucci C, D'Agosto G, Conti L, Stefanile A, Zannino S, Filippi MM, Cortese A, Piantadosi C, Maschio M, Maialetti A, Galiè E, Salvetti M, Inglese M
Front Immunol 2023;14:1226616. Epub 2023 Jul 31 doi: 10.3389/fimmu.2023.1226616. PMID: 37583699Free PMC Article
Niethammer M, Tang CC, Jamora RDG, Vo A, Nguyen N, Ma Y, Peng S, Waugh JL, Westenberger A, Eidelberg D
Ann Neurol 2023 Oct;94(4):684-695. Epub 2023 Jul 11 doi: 10.1002/ana.26732. PMID: 37376770
Manickavasagar R, Chemmanam T, Youssef A, Agarwal A, Prentice DA, Irish AB
QJM 2022 Jun 7;115(6):359-366. doi: 10.1093/qjmed/hcab140. PMID: 34010386
Bittencourt AML, Bampi VF, Sommer RC, Schaker V, Juruena MFP, Soder RB, Franco AR, Sanvicente-Vieira B, Grassi-Oliveira R, Ferreira PEMS
Psychiatry Res Neuroimaging 2021 Apr 30;310:111232. Epub 2020 Nov 23 doi: 10.1016/j.pscychresns.2020.111232. PMID: 33621927
Roberts RC
Schizophr Res 2017 Sep;187:17-25. Epub 2017 Feb 9 doi: 10.1016/j.schres.2017.01.056. PMID: 28189530Free PMC Article

Prognosis

Talati A, van Dijk MT, Pan L, Hao X, Wang Z, Gameroff M, Dong Z, Kayser J, Shankman S, Wickramaratne PJ, Posner J, Weissman MM
Biol Psychiatry 2022 Dec 15;92(12):932-941. Epub 2022 Jul 16 doi: 10.1016/j.biopsych.2022.06.035. PMID: 36038379Free PMC Article
Rissanen E, Carter K, Cicero S, Ficke J, Kijewski M, Park MA, Kijewski J, Stern E, Chitnis T, Silbersweig D, Weiner HL, Kim CK, Lyons J, Klein JP, Bhattacharyya S, Singhal T
Neurol Neuroimmunol Neuroinflamm 2022 Mar;9(2) Epub 2022 Jan 28 doi: 10.1212/NXI.0000000000001136. PMID: 35091466Free PMC Article
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM
Brain 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. PMID: 31412107Free PMC Article
Klein C, Münchau A
Handb Clin Neurol 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9. PMID: 23622412
Conneally PM
Am J Hum Genet 1984 May;36(3):506-26. PMID: 6233902Free PMC Article

Clinical prediction guides

Laansma MA, Bright JK, Al-Bachari S, Anderson TJ, Ard T, Assogna F, Baquero KA, Berendse HW, Blair J, Cendes F, Dalrymple-Alford JC, de Bie RMA, Debove I, Dirkx MF, Druzgal J, Emsley HCA, Garraux G, Guimarães RP, Gutman BA, Helmich RC, Klein JC, Mackay CE, McMillan CT, Melzer TR, Parkes LM, Piras F, Pitcher TL, Poston KL, Rango M, Ribeiro LF, Rocha CS, Rummel C, Santos LSR, Schmidt R, Schwingenschuh P, Spalletta G, Squarcina L, van den Heuvel OA, Vriend C, Wang JJ, Weintraub D, Wiest R, Yasuda CL, Jahanshad N, Thompson PM, van der Werf YD; ENIGMA-Parkinson's Study
Mov Disord 2021 Nov;36(11):2583-2594. Epub 2021 Jul 20 doi: 10.1002/mds.28706. PMID: 34288137Free PMC Article
Tolomeo S, Yaple ZA, Yu R
Addict Biol 2021 May;26(3):e12976. Epub 2020 Nov 24 doi: 10.1111/adb.12976. PMID: 33236447
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM
Brain 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. PMID: 31412107Free PMC Article
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
Brooks DJ, Pavese N
Prog Neurobiol 2011 Dec;95(4):614-28. Epub 2011 Aug 30 doi: 10.1016/j.pneurobio.2011.08.009. PMID: 21896306

Recent systematic reviews

Antoniou G, Lambourg E, Steele JD, Colvin LA
Br J Anaesth 2023 Jun;130(6):729-746. Epub 2023 Apr 21 doi: 10.1016/j.bja.2023.03.008. PMID: 37087334Free PMC Article
Percie du Sert O, Unrau J, Gauthier CJ, Chakravarty M, Malla A, Lepage M, Raucher-Chéné D
Prog Neuropsychopharmacol Biol Psychiatry 2023 Mar 8;121:110669. Epub 2022 Oct 28 doi: 10.1016/j.pnpbp.2022.110669. PMID: 36341843
Elsaid S, Rubin-Kahana DS, Kloiber S, Kennedy SH, Chavez S, Le Foll B
Int J Mol Sci 2022 Apr 26;23(9) doi: 10.3390/ijms23094754. PMID: 35563145Free PMC Article
Huang X, Lin J, Shang H, Yang J
J Neurol 2022 Jun;269(6):2862-2873. Epub 2022 Jan 11 doi: 10.1007/s00415-022-10961-y. PMID: 35013788
Sexton CE, Mackay CE, Ebmeier KP
Am J Geriatr Psychiatry 2013 Feb;21(2):184-95. Epub 2013 Jan 22 doi: 10.1016/j.jagp.2012.10.019. PMID: 23343492

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