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Spinal muskel atrofi

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  1. Shibuya K, Misawa S, Uzawa A, Sawai S, Tsuneyama A, Suzuki YI, Suichi T, Kojima Y, Nakamura K, Kano H, Prado M, Kuwabara S. . Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy. Neurol Neurosurg Psychiatry 2020. pmid:32934003 PubMed  
  2. Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Clinical Variability in Spinal Muscular Atrophy Type III. Ann Neurol. 2020 Dec;88(6):1109-1117. PMID: 32926458. PubMed  
  3. Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Ferraro M, Bozzoni V, Caumo L, Piras R, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Soraru' G, D'Errico E, Tramacere I, Bortolani S, Pavesi G, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry. 2020. pmid:32917822 PubMed  
  4. Hagenacker T, Wurster CD, Günther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Mönninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol 2020. pmid:32199097. PubMed  
  5. Chen J, Long X, Han Y. Using genetic testing to diagnose Kennedy's disease: a case report and literature review. Am J Transl Res. 2021 Jun 15;13(6):7412-7417. PMID: 34306514 PubMed  
  6. Rosenbohm A, Hirsch S, Volk AE, Grehl T, Grosskreutz J, Hanisch F, Herrmann A, Kollewe K, Kress W, Meyer T, Petri S, Prudlo J, Wessig C, Müller HP, Dreyhaupt J, Weishaupt J, Kubisch C, Kassubek J, Weydt P, Ludolph AC. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy. J Neurol. 2018 May;265(5):1026-1036. PMID: 29464380 PubMed  
  7. Hashizume A, Katsuno M, Suzuki K, Hirakawa A, Hijikata Y, Yamada S, Inagaki T, Banno H, Sobue G.. ong-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study. J Neurol Neurosurg Psychiatry. 2017. pmid:28780536 PubMed  
  8. Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, Tanaka F, Tamakoshi A, Sobue G.. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006. pmid:16621916 PubMed  
  9. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-115. PMID: 29290580 PubMed  
  10. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207. PMID: 29305137 PubMed  
  11. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732. PMID: 29091570 PubMed  
  12. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. PMID: 29443664 PubMed  
  13. Juntas Morales R, Pageot N, Taieb G, Camu W. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017 May;173(5):308-319. PMID: 28456383 PubMed  
  14. Querin G, Sorarù G, Pradat PF. Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy. Rev Neurol (Paris). 2017 May;173(5):326-337. PMID: 28473226 PubMed  
  15. https://neuromuscular.wustl.edu neuromuscular.wustl.edu  
  16. https://www.musculardystrophyuk.org www.musculardystrophyuk.org  
  17. https://www.omim.org/entry/313200?search=kennedy%20disease%20gene&highlight=disease%20gene%20kennedy www.omim.org  
  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Trine Haug Popperud, spesialist i nevrologi, PhD
  • Magnhild Rasmussen, spesialist i barnesykdommer, dr med