Survival and severity in dominant cerebellar ataxias.
Ann Clin Transl Neurol. 2015-01-07; 2(2): 202-207
DOI: 10.1002/acn3.156
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1. Ann Clin Transl Neurol. 2015 Feb;2(2):202-7. doi: 10.1002/acn3.156. Epub 2015 Jan
7.
Survival and severity in dominant cerebellar ataxias.
Monin ML(1), Tezenas du Montcel S(2), Marelli C(3), Cazeneuve C(4), Charles P(4),
Tallaksen C(5), Forlani S(6), Stevanin G(7), Brice A(1), Durr A(1).
Author information:
(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.
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