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Juvenile or adult CACH syndrome

MedGen UID:
1826173
Concept ID:
C5680649
Disease or Syndrome
Synonym: juvenile or adult CACH syndrome
 
Monarch Initiative: MONDO:0015521
Orphanet: ORPHA157719

Professional guidelines

PubMed

Waldman R, DeWane ME, Lu J
J Am Acad Dermatol 2020 Feb;82(2):283-296. Epub 2019 Jul 4 doi: 10.1016/j.jaad.2019.05.105. PMID: 31279813
Riddell MC, Gallen IW, Smart CE, Taplin CE, Adolfsson P, Lumb AN, Kowalski A, Rabasa-Lhoret R, McCrimmon RJ, Hume C, Annan F, Fournier PA, Graham C, Bode B, Galassetti P, Jones TW, Millán IS, Heise T, Peters AL, Petz A, Laffel LM
Lancet Diabetes Endocrinol 2017 May;5(5):377-390. Epub 2017 Jan 24 doi: 10.1016/S2213-8587(17)30014-1. PMID: 28126459
Caturegli P, De Remigis A, Rose NR
Autoimmun Rev 2014 Apr-May;13(4-5):391-7. Epub 2014 Jan 13 doi: 10.1016/j.autrev.2014.01.007. PMID: 24434360

Recent clinical studies

Etiology

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article
Barañano KW
Semin Neurol 2016 Aug;36(4):362-6. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585455. PMID: 27643905
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ
Nat Genet 2016 Oct;48(10):1185-92. Epub 2016 Aug 29 doi: 10.1038/ng.3661. PMID: 27571260Free PMC Article

Diagnosis

Williams T, John N, Doshi A, Chataway J
Handb Clin Neurol 2024;204:399-430. doi: 10.1016/B978-0-323-99209-1.00003-X. PMID: 39322392
Manikandan M, Azariah B, Sharma R
J Cancer Res Ther 2023 Oct 1;19(7):2076-2078. Epub 2023 Jan 12 doi: 10.4103/jcrt.jcrt_2165_21. PMID: 38376324
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article
Renaud DL
Continuum (Minneap Minn) 2016 Apr;22(2 Dementia):559-78. doi: 10.1212/CON.0000000000000303. PMID: 27042908

Therapy

Manikandan M, Azariah B, Sharma R
J Cancer Res Ther 2023 Oct 1;19(7):2076-2078. Epub 2023 Jan 12 doi: 10.4103/jcrt.jcrt_2165_21. PMID: 38376324
Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852Free PMC Article
Rost NS, Meschia JF, Gottesman R, Wruck L, Helmer K, Greenberg SM; DISCOVERY Investigators
Stroke 2021 Aug;52(8):e499-e516. Epub 2021 May 27 doi: 10.1161/STROKEAHA.120.031611. PMID: 34039035Free PMC Article
Yoshimura K, Tokunaga S, Daga H, Inoue M
Intern Med 2019 Feb 15;58(4):621-622. Epub 2018 Oct 17 doi: 10.2169/internalmedicine.0961-18. PMID: 30333392Free PMC Article
Alstadhaug KB, Myhr KM, Rinaldo CH
Tidsskr Nor Laegeforen 2017 Dec 12;137(23-24) doi: 10.4045/tidsskr.16.1092. PMID: 29231623

Prognosis

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article
Holm H, Nägga K, Nilsson ED, Ricci F, Cinosi E, Melander O, Hansson O, Bachus E, Magnusson M, Fedorowski A
Cerebrovasc Dis 2017;44(5-6):259-265. Epub 2017 Aug 31 doi: 10.1159/000479940. PMID: 28854435
van Leijsen EMC, de Leeuw FE, Tuladhar AM
Clin Sci (Lond) 2017 Jun 1;131(12):1191-1206. doi: 10.1042/CS20160384. PMID: 28566448
Vanderver A
Continuum (Minneap Minn) 2016 Jun;22(3):916-42. doi: 10.1212/CON.0000000000000338. PMID: 27261689Free PMC Article

Clinical prediction guides

Vanjare HA, Selvi BT, Karuppusami R, Manesh A, Gunasekaran K, Prabhakar AT, Mannam P, Jasper A
AJNR Am J Neuroradiol 2020 Dec;41(12):2250-2254. Epub 2020 Oct 29 doi: 10.3174/ajnr.A6803. PMID: 33122207Free PMC Article
Cuzzocrea M, Florimonte L, Scola E, Benti R, Castellani M
Clin Nucl Med 2020 Oct;45(10):e439-e440. doi: 10.1097/RLU.0000000000003199. PMID: 32657880
Debette S, Schilling S, Duperron MG, Larsson SC, Markus HS
JAMA Neurol 2019 Jan 1;76(1):81-94. doi: 10.1001/jamaneurol.2018.3122. PMID: 30422209Free PMC Article
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O
J Inherit Metab Dis 2008 Jun;31(3):295-307. Epub 2008 Feb 25 doi: 10.1007/s10545-008-0778-0. PMID: 18344012
Kang SJ, Choi SH, Lee BH, Jeong Y, Hahm DS, Han IW, Cummings JL, Na DL
J Geriatr Psychiatry Neurol 2004 Mar;17(1):32-5. doi: 10.1177/089198873258818. PMID: 15018695

Recent systematic reviews

de Azevedo Sodré Silva A, Sassi LB, Martins TB, de Menezes FS, Migliorini F, Maffulli N, Okubo R
J Orthop Surg Res 2023 Oct 4;18(1):748. doi: 10.1186/s13018-023-04224-3. PMID: 37789463Free PMC Article
Zeng L, Yang T, Yang K, Yu G, Li J, Xiang W, Chen H
Front Immunol 2022;13:891822. Epub 2022 Jul 22 doi: 10.3389/fimmu.2022.891822. PMID: 35935936Free PMC Article
Iso-Markku P, Kujala UM, Knittle K, Polet J, Vuoksimaa E, Waller K
Br J Sports Med 2022 Jun;56(12):701-709. Epub 2022 Mar 17 doi: 10.1136/bjsports-2021-104981. PMID: 35301183Free PMC Article
Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
Arthritis Rheumatol 2022 Apr;74(4):553-569. Epub 2022 Mar 1 doi: 10.1002/art.42037. PMID: 35233993Free PMC Article
Onel KB, Horton DB, Lovell DJ, Shenoi S, Cuello CA, Angeles-Han ST, Becker ML, Cron RQ, Feldman BM, Ferguson PJ, Gewanter H, Guzman J, Kimura Y, Lee T, Murphy K, Nigrovic PA, Ombrello MJ, Rabinovich CE, Tesher M, Twilt M, Klein-Gitelman M, Barbar-Smiley F, Cooper AM, Edelheit B, Gillispie-Taylor M, Hays K, Mannion ML, Peterson R, Flanagan E, Saad N, Sullivan N, Szymanski AM, Trachtman R, Turgunbaev M, Veiga K, Turner AS, Reston JT
Arthritis Care Res (Hoboken) 2022 Apr;74(4):521-537. Epub 2022 Mar 1 doi: 10.1002/acr.24853. PMID: 35233986Free PMC Article

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