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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
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M
Nat Rev Neurol 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. PMID: 19347027

Recent clinical studies

Etiology

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
Zhao J, Zhang H, Fan X, Yu X, Huai J
Mol Neurobiol 2022 Jun;59(6):3800-3828. Epub 2022 Apr 14 doi: 10.1007/s12035-022-02826-2. PMID: 35420383Free 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
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

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
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
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

Therapy

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, 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;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schöls L, Strupp M, Synofzik M, Teufel J, Timmann D
Cerebellum 2014 Apr;13(2):248-68. doi: 10.1007/s12311-013-0531-6. PMID: 24222635Free PMC Article
Guan WJ, Liu XJ, Tang BS, Liu YT, Zhou Y, Jiang H, Shen L, Xia K, Wang JL
Neurol India 2013 May-Jun;61(3):226-30. doi: 10.4103/0028-3886.115056. PMID: 23860139

Prognosis

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
Damásio J, Santos D, Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J
Clin Genet 2021 Jul;100(1):79-83. Epub 2021 Apr 22 doi: 10.1111/cge.13954. PMID: 33682124
Witek N, Hawkins J, Hall D
Curr Neurol Neurosci Rep 2021 Feb 26;21(3):13. doi: 10.1007/s11910-021-01092-4. PMID: 33638050
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
Dupré N, Bouchard JP, Brais B, Rouleau GA
Can J Neurol Sci 2006 May;33(2):149-57. doi: 10.1017/s031716710000490x. PMID: 16736723

Clinical prediction guides

Gorcenco S, Karremo C, Puschmann A
Cerebellum 2024 Feb;23(1):82-91. Epub 2022 Dec 16 doi: 10.1007/s12311-022-01505-1. PMID: 36525215Free 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
Berntsson SG, Gauffin H, Melberg A, Holtz A, Landtblom AM
Stereotact Funct Neurosurg 2019;97(1):18-23. Epub 2019 Mar 14 doi: 10.1159/000497165. PMID: 30870851
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
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587

Recent systematic reviews

Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM
J Neurol 2022 Jan;269(1):437-450. Epub 2021 Sep 6 doi: 10.1007/s00415-021-10792-3. PMID: 34487232
Liu J, Wang LN
Drug Deliv 2018 Nov;25(1):43-48. doi: 10.1080/10717544.2017.1413446. PMID: 29226728Free 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;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587
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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