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Monin ML, Tezenas du Montcel S, Marelli C, et al. Survival and severity in dominant cerebellar ataxias. Ann Clin Transl Neurol. 2015;2(2):202-7doi: 10.1002/acn3.156.
Monin, M. L., Tezenas du Montcel, S., Marelli, C., Cazeneuve, C., Charles, P., Tallaksen, C., Forlani, S., Stevanin, G., Brice, A., & Durr, A. (2015). Survival and severity in dominant cerebellar ataxias. Annals of clinical and translational neurology, 2(2), 202-7. https://doi.org/10.1002/acn3.156
Monin, Marie-Lorraine, et al. "Survival and severity in dominant cerebellar ataxias." Annals of clinical and translational neurology vol. 2,2 (2015): 202-7. doi: https://doi.org/10.1002/acn3.156
Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Transl Neurol. 2015 Feb;2(2):202-7. doi: 10.1002/acn3.156. Epub 2015 Jan 07. PMID: 25750924; PMCID: PMC4338960.
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Ann Clin Transl Neurol. 2015 Feb;2(2):202-7. doi: 10.1002/acn3.156. Epub 2015 Jan 07.

Survival and severity in dominant cerebellar ataxias.

Annals of clinical and translational neurology

Marie-Lorraine Monin, Sophie Tezenas du Montcel, Cecilia Marelli, Cecile Cazeneuve, Perrine Charles, Chantal Tallaksen, Sylvie Forlani, Giovanni Stevanin, Alexis Brice, Alexandra Durr

Affiliations

  1. AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.
  2. Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06, UMR S 1136, INSERM U 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique F-75013, Paris, France ; AP-HP, Biostatistics Unit, Groupe Hospitalier Pitié-Salpêtrière F-75013, Paris, France.
  3. Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France ; Department of Neurology, CHRU Guy de Chauliac Montpellier, France.
  4. AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France.
  5. Department of Neurology, Oslo University Oslo, Norway ; Faculty of Medicine, Oslo University Oslo, Norway.
  6. Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.
  7. Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France ; Neurogenetics Team, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle épinière F-75013, Paris, France.

PMID: 25750924 PMCID: PMC4338960 DOI: 10.1002/acn3.156

Abstract

Inherited spinocerebellar ataxias (SCAs) are known to be genetically and clinically heterogeneous. Whether severity and survival are variable, however, is not known. We, therefore, studied survival and severity in 446 cases and 509 relatives with known mutations. Survival was 68 years [95% CI: 65-70] in 223 patients with polyglutamine expansions versus 80 years [73-84] in 23 with other mutations (P < 0.0001). Disability was also more severe in the former: at age 60, 30% were wheelchair users versus 3% with other SCAs (P < 0.001). This has implications for genetic counseling and the design of therapeutic trials.

References

  1. Lancet Neurol. 2013 Jul;12(7):650-8 - PubMed
  2. Mov Disord. 1992;7(3):193-203 - PubMed
  3. Brain. 1995 Dec;118 ( Pt 6):1573-81 - PubMed
  4. Lancet Oncol. 2012 Jun;13(6):642-8 - PubMed
  5. Neurology. 2011 Sep 13;77(11):1035-41 - PubMed
  6. Neurology. 2002 Mar 12;58(5):702-8 - PubMed
  7. Clin Genet. 2007 Dec;72 (6):543-5 - PubMed
  8. Acta Neurol Scand. 2005 Mar;111(3):154-62 - PubMed
  9. Ann Neurol. 1996 Apr;39(4):500-6 - PubMed
  10. Brain. 1998 Apr;121 ( Pt 4):589-600 - PubMed
  11. Lancet Neurol. 2010 Sep;9(9):885-94 - PubMed
  12. Cerebellum. 2010 Jun;9(2):210-7 - PubMed
  13. Neurology. 2008 Sep 23;71(13):982-9 - PubMed
  14. Arch Neurol. 2012 Apr;69(4):500-8 - PubMed
  15. Neuroimage. 2010 Jan 1;49(1):158-68 - PubMed
  16. Mov Disord. 2008 Nov 15;23 (15):2232-8 - PubMed
  17. Am J Hum Genet. 2014 Aug 7;95(2):209-17 - PubMed

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