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Hereditary ataxia

MedGen UID:
2478
Concept ID:
C0004138
Disease or Syndrome
Synonym: Hereditary Ataxias
SNOMED CT: Hereditary ataxia (763597000)
 
Gene (location): KCND3 (1p13.2)
 
Monarch Initiative: MONDO:0100309
Orphanet: ORPHA183518

Definition

An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

de Silva R, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, Giunti P
Orphanet J Rare Dis 2019 Feb 20;14(1):51. doi: 10.1186/s13023-019-1013-9. PMID: 30786918Free PMC Article
Vogel AP, Keage MJ, Johansson K, Schalling E
Cochrane Database Syst Rev 2015 Nov 13;2015(11):CD010169. doi: 10.1002/14651858.CD010169.pub2. PMID: 26564018Free PMC Article
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;2014(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587Free PMC Article

Recent clinical studies

Etiology

Pilotto F, Del Bondio A, Puccio H
Cells 2024 Feb 9;13(4) doi: 10.3390/cells13040319. PMID: 38391932Free PMC Article
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium
Genet Med 2023 Jan;25(1):76-89. Epub 2022 Nov 4 doi: 10.1016/j.gim.2022.09.013. PMID: 36331550Free PMC Article
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM
Int J Mol Sci 2021 Aug 6;22(16) doi: 10.3390/ijms22168490. PMID: 34445196Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Berciano J, García A, Infante J
Handb Clin Neurol 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. PMID: 23931821

Diagnosis

Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP
Cerebellum 2022 Dec;21(6):1073-1084. Epub 2021 Nov 15 doi: 10.1007/s12311-021-01345-5. PMID: 34782953
Boltshauser E, Weber KP
Handb Clin Neurol 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. PMID: 29903445
Ashizawa T, Xia G
Continuum (Minneap Minn) 2016 Aug;22(4 Movement Disorders):1208-26. doi: 10.1212/CON.0000000000000362. PMID: 27495205Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
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

Therapy

Yigit S, Usgu S, Albayrak HM, Yücel PP, Yakut Y
NeuroRehabilitation 2022;51(1):41-50. doi: 10.3233/NRE-210320. PMID: 35311719
Wang Q, Guo L, Strawser CJ, Hauser LA, Hwang WT, Snyder NW, Lynch DR, Mesaros C, Blair IA
PLoS One 2018;13(2):e0192779. Epub 2018 Feb 15 doi: 10.1371/journal.pone.0192779. PMID: 29447225Free PMC Article
Berntsson SG, Landtblom AM, Flensner G
PLoS One 2017;12(6):e0180054. Epub 2017 Jun 27 doi: 10.1371/journal.pone.0180054. PMID: 28654671Free PMC Article
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;2014(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587Free PMC Article
Casarejos MJ, Perucho J, López-Sendón JL, García de Yébenes J, Bettencourt C, Gómez A, Ruiz C, Heutink P, Rizzu P, Mena MA
PLoS One 2014;9(9):e106931. Epub 2014 Sep 26 doi: 10.1371/journal.pone.0106931. PMID: 25259530Free PMC Article

Prognosis

Takekoshi A, Kimura A, Yoshikura N, Yamakawa I, Urushitani M, Nakamura K, Yoshida K, Shimohata T
Cerebellum 2023 Oct;22(5):915-924. Epub 2022 Sep 3 doi: 10.1007/s12311-022-01468-3. PMID: 36057079
Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J
BMC Neurol 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. PMID: 35578252Free PMC Article
Alvarenga MP, Siciliani LC, Carvalho RS, Ganimi MC, Penna PS
Neurol Sci 2022 Aug;43(8):4997-5005. Epub 2022 Apr 25 doi: 10.1007/s10072-022-06084-x. PMID: 35469073
Arias Merino G, Sánchez Díaz G, Villaverde-Hueso A, Posada de la Paz M, Alonso Ferreira V
Adv Exp Med Biol 2017;1031:521-533. doi: 10.1007/978-3-319-67144-4_28. PMID: 29214590
Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN
J Voice 2017 Mar;31(2):243.e9-243.e19. Epub 2016 Aug 5 doi: 10.1016/j.jvoice.2016.04.015. PMID: 27501923

Clinical prediction guides

Vancheri C, Quatrana A, Morini E, Mariotti C, Mongelli A, Fichera M, Rufini A, Condò I, Testi R, Novelli G, Malisan F, Amati F
Hum Genomics 2024 May 22;18(1):50. doi: 10.1186/s40246-024-00602-y. PMID: 38778374Free PMC Article
Ye ZX, Bi J, Qiu LL, Chen XY, Li MC, Chen XY, Qiu YS, Yuan RY, Yu XT, Huang CY, Cheng B, Lin W, Chen WJ, Hu JP, Fu Y, Wang N, Gan SR; OSCCAR Investigators
J Neurol 2024 Feb;271(2):918-928. Epub 2023 Oct 18 doi: 10.1007/s00415-023-12042-0. PMID: 37848650
Alvarenga MP, Siciliani LC, Carvalho RS, Ganimi MC, Penna PS
Neurol Sci 2022 Aug;43(8):4997-5005. Epub 2022 Apr 25 doi: 10.1007/s10072-022-06084-x. PMID: 35469073
Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Kalikavil Puthanveedu D, Cherian A, Mukerji M, Srivastava AK, Faruq M
Clin Genet 2019 Dec;96(6):566-574. Epub 2019 Sep 1 doi: 10.1111/cge.13625. PMID: 31429931
Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN
J Voice 2017 Mar;31(2):243.e9-243.e19. Epub 2016 Aug 5 doi: 10.1016/j.jvoice.2016.04.015. PMID: 27501923

Recent systematic reviews

Tenorio RB, Camargo CHF, Donis KC, Almeida CCB, Teive HAG
Cerebellum 2024 Aug;23(4):1552-1565. Epub 2023 Nov 11 doi: 10.1007/s12311-023-01629-y. PMID: 37950147
Winser S, Chan HK, Chen WK, Hau CY, Leung SH, Leung YH, Bello UM
Physiother Theory Pract 2023 Jul 3;39(7):1355-1375. Epub 2022 Feb 25 doi: 10.1080/09593985.2022.2037115. PMID: 35212247
Vogel AP, Keage MJ, Johansson K, Schalling E
Cochrane Database Syst Rev 2015 Nov 13;2015(11):CD010169. doi: 10.1002/14651858.CD010169.pub2. PMID: 26564018Free PMC Article
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;2014(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587Free PMC Article
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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