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Autosomal recessive syndromic cerebellar ataxia

MedGen UID:
1843251
Concept ID:
C5681516
Disease or Syndrome
Synonym: autosomal recessive syndromic cerebellar ataxia
 
Monarch Initiative: MONDO:0020047
Orphanet: ORPHA98099

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Renaud M, Tranchant C, Koenig M, Anheim M
Mov Disord 2020 Dec;35(12):2139-2149. Epub 2020 Oct 12 doi: 10.1002/mds.28307. PMID: 33044027
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
Mariotti C, Di Donato S
Neurol Sci 2001 Nov;22 Suppl 2:S88-92. doi: 10.1007/s100720100042. PMID: 11794486
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077

Diagnosis

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article

Therapy

Kuhn K, Lederman HM, McGrath-Morrow SA
Expert Opin Investig Drugs 2023 Jul-Dec;32(8):693-704. Epub 2023 Aug 28 doi: 10.1080/13543784.2023.2249399. PMID: 37622329Free PMC Article
Woelke S, Pommerening H, Kieslich M, Schubert R, Zielen S
Growth Factors 2017 Jun;35(2-3):125-130. doi: 10.1080/08977194.2017.1367681. PMID: 28948852
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E
Epilepsia 2008 Apr;49(4):549-56. Epub 2008 Mar 5 doi: 10.1111/j.1528-1167.2008.01546.x. PMID: 18325013
Smith LL, Conerly SL
J Am Acad Dermatol 1985 Apr;12(4):681-96. doi: 10.1016/s0190-9622(85)70094-1. PMID: 2580869

Prognosis

Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium, Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A
Brain 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. PMID: 37450567Free PMC Article
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Sep;16(9):859-871. Epub 2020 Oct 15 doi: 10.1080/1744666X.2020.1810570. PMID: 32791865
Arias M
Neurologia (Engl Ed) 2019 May;34(4):248-258. Epub 2016 Jul 25 doi: 10.1016/j.nrl.2016.06.006. PMID: 27460185
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM
Orphanet J Rare Dis 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. PMID: 27884168Free PMC Article
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article

Clinical prediction guides

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Dupré M, Hermann R, Froment Tilikete C
Cerebellum 2021 Oct;20(5):687-700. Epub 2020 Oct 4 doi: 10.1007/s12311-020-01192-w. PMID: 33011895Free PMC Article
Teive HAG, Camargo CHF, Munhoz RP
Parkinsonism Relat Disord 2018 Jan;46:3-8. Epub 2017 Dec 12 doi: 10.1016/j.parkreldis.2017.12.009. PMID: 29249681
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775

Recent systematic reviews

Moeini Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani SA, Sadeghi-Shabestari M, Aghamohammadi A, Rezaei N, Abolhassani H
Front Immunol 2021;12:779502. Epub 2022 Jan 14 doi: 10.3389/fimmu.2021.779502. PMID: 35095854Free PMC Article

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