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Ataxia-telangiectasia-like disorder(ATLD)

MedGen UID:
348929
Concept ID:
C1858391
Disease or Syndrome
Synonym: ATLD
SNOMED CT: Ataxia-telangiectasia-like disorder (700058006); ATLD - ataxia telangiectasia-like disorder (700058006)
 
Monarch Initiative: MONDO:0011457
OMIM®: 604391
OMIM® Phenotypic series: PS604391

Definition

An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. [from MONDO]

Recent clinical studies

Etiology

Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M
Aging (Albany NY) 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. PMID: 38345566Free PMC Article
Unterholzner L
Immunobiology 2013 Nov;218(11):1312-21. Epub 2013 Jul 29 doi: 10.1016/j.imbio.2013.07.007. PMID: 23962476
Wolf NI, Koenig M
Handb Clin Neurol 2013;113:1869-78. doi: 10.1016/B978-0-444-59565-2.00057-5. PMID: 23622410
Finsterer J
Can J Neurol Sci 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. PMID: 19650351
Taylor AM
Best Pract Res Clin Haematol 2001 Sep;14(3):631-44. doi: 10.1053/beha.2001.0158. PMID: 11640873

Diagnosis

Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M
Aging (Albany NY) 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. PMID: 38345566Free PMC Article
Takagi M, Hoshino A, Bousset K, Röddecke J, Martin HL, Folcut I, Tomomasa D, Yang X, Kobayashi J, Sakata N, Yoshida K, Miyano S, Ogawa S, Kojima S, Morio T, Dörk T, Kanegane H
J Clin Immunol 2023 Nov;43(8):2136-2145. Epub 2023 Oct 5 doi: 10.1007/s10875-023-01591-8. PMID: 37794136
Magrino J, Munford V, Martins DJ, Homma TK, Page B, Gaubitz C, Freire BL, Lerario AM, Vilar JB, Amorin A, Leão EKE, Kok F, Menck CF, Jorge AA, Kelch BA
J Biol Chem 2023 May;299(5):104656. Epub 2023 Mar 27 doi: 10.1016/j.jbc.2023.104656. PMID: 36990216Free PMC Article
Taylor AM, Groom A, Byrd PJ
DNA Repair (Amst) 2004 Aug-Sep;3(8-9):1219-25. doi: 10.1016/j.dnarep.2004.04.009. PMID: 15279810
Taylor AM
Best Pract Res Clin Haematol 2001 Sep;14(3):631-44. doi: 10.1053/beha.2001.0158. PMID: 11640873

Therapy

Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, Nonoyama S, Ohara O, Watanabe F, Mizutani S, Hanada R, Morio T
J Pediatr 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037. PMID: 19732584

Prognosis

Tarapara B, Shah F
J Biomol Struct Dyn 2023 Apr;41(6):2160-2174. Epub 2022 Jan 20 doi: 10.1080/07391102.2022.2028678. PMID: 35048780
Regal JA, Festerling TA, Buis JM, Ferguson DO
Hum Mol Genet 2013 Dec 20;22(25):5146-59. Epub 2013 Aug 2 doi: 10.1093/hmg/ddt368. PMID: 23912341Free PMC Article
Oba D, Hayashi M, Minamitani M, Hamano S, Uchisaka N, Kikuchi A, Kishimoto H, Takagi M, Morio T, Mizutani S
Acta Neuropathol 2010 Apr;119(4):513-20. Epub 2010 Jan 20 doi: 10.1007/s00401-010-0639-4. PMID: 20087742
Uchisaka N, Takahashi N, Sato M, Kikuchi A, Mochizuki S, Imai K, Nonoyama S, Ohara O, Watanabe F, Mizutani S, Hanada R, Morio T
J Pediatr 2009 Sep;155(3):435-8. doi: 10.1016/j.jpeds.2009.02.037. PMID: 19732584
Theunissen JW, Kaplan MI, Hunt PA, Williams BR, Ferguson DO, Alt FW, Petrini JH
Mol Cell 2003 Dec;12(6):1511-23. doi: 10.1016/s1097-2765(03)00455-6. PMID: 14690604

Clinical prediction guides

Fiévet A, Bellanger D, Valence S, Mobuchon L, Afenjar A, Giuliano F, Dubois d'Enghien C, Parfait B, Pedespan JM, Auger N, Rieunier G, Collet A, Burglen L, Stoppa-Lyonnet D, Stern MH
Hum Mutat 2019 Oct;40(10):1690-1699. Epub 2019 May 15 doi: 10.1002/humu.23773. PMID: 31033087
Unterholzner L
Immunobiology 2013 Nov;218(11):1312-21. Epub 2013 Jul 29 doi: 10.1016/j.imbio.2013.07.007. PMID: 23962476
Khan AO, Oystreck DT, Koenig M, Salih MA
J AAPOS 2008 Apr;12(2):186-9. Epub 2007 Dec 21 doi: 10.1016/j.jaapos.2007.09.016. PMID: 18083591
Lee JH, Ghirlando R, Bhaskara V, Hoffmeyer MR, Gu J, Paull TT
J Biol Chem 2003 Nov 14;278(46):45171-81. Epub 2003 Sep 8 doi: 10.1074/jbc.M308705200. PMID: 12966088
Petrini JH
Curr Opin Cell Biol 2000 Jun;12(3):293-6. doi: 10.1016/s0955-0674(00)00091-0. PMID: 10801460

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