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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

Jovanovski-Srceva M, Kondov G, Kartalov A, Georgiev A, Kuzmanovski I, Osmani B, Andov M, Gavrilovska-Brzanov A, Jakupi N, Stevic M, Stojanoski S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2023 Dec 1;44(3):65-71. Epub 2023 Dec 18 doi: 10.2478/prilozi-2023-0048. PMID: 38109457
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
Dumitrache LC, McKinnon PJ
Mech Ageing Dev 2017 Jan;161(Pt A):121-129. Epub 2016 Apr 26 doi: 10.1016/j.mad.2016.04.009. PMID: 27125728Free PMC Article
Rahman N, Scott RH
Hum Mol Genet 2007 Apr 15;16 Spec No 1:R60-6. doi: 10.1093/hmg/ddm026. PMID: 17613548
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259

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
Baghbanian SM, Mahdavi Amiri MR, Majidi H
Pract Neurol 2021 Jun;21(3):243-245. Epub 2021 Apr 14 doi: 10.1136/practneurol-2020-002895. PMID: 33853856
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
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C
J Med Genet 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. PMID: 8929954Free PMC Article

Therapy

Verma R, Mehta M, Shettigar C, Singla S
BMJ Case Rep 2018 Jun 28;2018 doi: 10.1136/bcr-2018-225638. PMID: 29954774Free PMC Article
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD
Mol Med Rep 2018 Jul;18(1):261-267. Epub 2018 May 3 doi: 10.3892/mmr.2018.8955. PMID: 29749493Free PMC Article
Mizutani S, Takagi M
Int J Hematol 2013 Jan;97(1):37-42. Epub 2012 Dec 25 doi: 10.1007/s12185-012-1240-5. PMID: 23266960
Vurucu S, Congologlu A, Altun D, Unay B, Akin R
J Natl Med Assoc 2009 Mar;101(3):273-5. doi: 10.1016/s0027-9684(15)30858-0. PMID: 19331262
Swift M, Sholman L, Perry M, Chase C
Cancer Res 1976 Jan;36(1):209-15. PMID: 1248000

Prognosis

Amprosi M, Zech M, Steiger R, Nachbauer W, Eigentler A, Gizewski ER, Guger M, Indelicato E, Boesch S
Neurogenetics 2021 Mar;22(1):81-86. Epub 2020 Aug 24 doi: 10.1007/s10048-020-00624-3. PMID: 32830305Free 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
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD
Mol Med Rep 2018 Jul;18(1):261-267. Epub 2018 May 3 doi: 10.3892/mmr.2018.8955. PMID: 29749493Free 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
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259

Clinical prediction guides

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
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD
Mol Med Rep 2018 Jul;18(1):261-267. Epub 2018 May 3 doi: 10.3892/mmr.2018.8955. PMID: 29749493Free PMC Article
Rahman N, Scott RH
Hum Mol Genet 2007 Apr 15;16 Spec No 1:R60-6. doi: 10.1093/hmg/ddm026. PMID: 17613548
Radford DM, Zehnbauer BA
Surg Clin North Am 1996 Apr;76(2):205-20. doi: 10.1016/s0039-6109(05)70434-5. PMID: 8610259
Kojis TL, Gatti RA, Sparkes RS
Cancer Genet Cytogenet 1991 Oct 15;56(2):143-56. doi: 10.1016/0165-4608(91)90164-p. PMID: 1756458

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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