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Arvelige nevrodegenerative ataksier

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. de Silva R, Greenfield J, Cook A, et al. Guidelines on the Diagnosis and Management of the Progressive Ataxias. Orphanet J Rare Dis 2019; 14(1): 51. pmid:30786918 PubMed  
  2. THE NATIONAL CENTER FOR BIOTECHNOLOGY INFORMATION UNIVERSITY OF WASHINGTON. Gene Reviews, 2014
  3. Hoem G, Koht J.. Fragile X-associated Tremor/Ataxia Syndrome. Tidsskr Nor Laegefore 2017. pmid:29094559 PubMed  
  4. Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, Wood NW, Colosimo C, Dürr A, Fowler CJ, Kaufmann H, Klockgether T, Lees A, Poewe W, Quinn N, Revesz T, Robertson D, Sandroni P, Seppi K, Vidailhet M.. Second Consensus Statement on the Diagnosis of Multiple System Atrophy. Neurology. 2008; Aug 26;71(9): 670-6. pmid:18725592 PubMed  
  5. Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T.. Clinical and Genetic Characteristics of Sporadic Adult-Onset Degenerative Ataxia. Neurology 2017; Sep 5;89(10): 1043-1049. pmid:28794257 PubMed  
  6. Beaudin M, Klein CJ, Rouleau GA, Dupré N. Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Beaudin M, Matilla-Dueñas A, Soong BW, et al. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. Cerebellum. 2019;18(6):1098–1125 pmid:31267374 PubMed  
  7. Mundwiler A, Shakkottai VG. Autosomal-dominant Cerebellar Ataxia . Handb Clin Neurol 2018; 147: 173-185. pmid:29325610 PubMed  
  8. Soong BW, Morrison PJ.. Spinocerebellar Ataxias. Handb Clin Neurol 2018; 155: 143-174. pmid:29891056 PubMed  
  9. Synofzik M, Németh AH.. Recessive Ataxias. Handb Clin Neurol 2018; 155: 73-89. pmid:29891078 PubMed  
  10. Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010; 17: 179-88. pmid:20500522 PubMed  
  11. Teive HA, Ashizawa T.. Primary and Secondary Ataxias. Curr Opin Neurol 2015; Aug;28(4): 413-2. pmid:26132530 PubMed  
  12. Dragašević-Mišković N, Stanković I, Milovanović A, Kostić VS. Autosomal recessive adult onset ataxia. J Neurol. 2021 Sep 9. doi: 10.1007/s00415-021-10763-8. Epub ahead of print. PMID: 34499204.
  13. Cortese A, Simone R, Sullivan R, et al. . Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia. Nat Gene 2019. pmid:30926972 PubMed  
  14. Cortese A, Curro' R, Vegezzi E, Yau WY, Houlden H, Reilly MM. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects. Pract Neurol. 2022 Feb;22(1):14-18. doi: 10.1136/practneurol-2020-002822. Epub 2021 Aug 13. PMID: 34389644. PubMed  
  15. Paisán-Ruiz C, Jen JC. CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion. Brain. 2020 Feb 1;143(2):386-390. PMID: 32040556. PubMed  
  16. Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A. Motor neuron pathology in CANVAS due to RFC1 expansions. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205. PubMed  
  17. urrò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. PMID: 33969391; PMCID: PMC8262986.
  18. Sullivan R, Yau WY, Chelban V, Rossi S, Dominik N, O'Connor E, Hardy J, Wood N, Cortese A, Houlden H. RFC1-related ataxia is a mimic of early multiple system atrophy. J Neurol Neurosurg Psychiatry. 2021 Feb 9;92(4):444–6. PMID: 33563805 PubMed  
  19. Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490. PMID: 32040566 PubMed  
  20. Fearon C, Lonergan R, Ferguson D, Byrne S, Bradley D, Langan Y, Redmond J. Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia. Pract Neurol. 2020 Feb;20(1):55-58. PMID: 31467149. PubMed  
  21. Gandini J, Manto M, Bremova-Ertl T, Feil K, Strupp M. The neurological update: therapies for cerebellar ataxias in 2020. J Neurol. 2020 Apr;267(4):1211-1220. PMID: 32002650. PubMed  
  22. Tiet MY, Horvath R, Hensiek AE. Ataxia telangiectasia: what the neurologist needs to know. Pract Neurol. 2020 Oct;20(5):404-414. PMID: 32958592. PubMed  
  23. Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK. Biallelic POLR3A Variants Confirmed as a Frequent Cause of Hereditary Ataxia and Spastic Paraparesis. Brain 2019. pmid:3084747 PubMed  
  24. Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. J Neurol Neurosurg Psychiatry. 2020 Sep 17:jnnp-2020-323719. Epub ahead of print. PMID: 32943585. PubMed  
  25. Hagerman PJ, Hagerman RJ. . Fragile X-associated tremor/ataxia syndrome.. Ann N Y Acad Sci. 2015. pmid:25622649 PubMed  
  26. Paulson HL, Shakkottai VG, Clark HB, Orr HT. . Polyglutamine spinocerebellar ataxias - from genes to potential treatments. . Nat Rev Neurosci. 2017. pmid:28855740 PubMed  
  27. Zesiewicz TA, Wilmot G, Kuo SH, et al. . Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2018;90(10):464–471. 2018. pmid:29440566 PubMed  
  28. Coin JT, Vance JM. Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism. Mov Disord. 2021 May;36(5):1264-1267. doi: 10.1002/mds.28491. Epub 2021 Jan 16. PMID: 33452831. PubMed  
  29. Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N. Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review. J Neurol. 2022 May;269(5):2315-2337. doi: 10.1007/s00415-021-10874-2. Epub 2021 Nov 6. PMID: 34743220. PubMed  
  • Jeanette Koht, spesialist i nevrologi, PhD
  • Siri Lynne Rydning, spesialist i nevrologi
  • Chantal Tallaksen, spesialist i nevrologi, professor em dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med