Survival and severity in dominant cerebellar ataxias

被引：31

作者：

Monin, Marie-Lorraine ^{[1
,2
]}

du Montcel, Sophie Tezenas ^{[3
,4
]}

Marelli, Cecilia ^{[2
,5
]}

Cazeneuve, Cecile ^{[1
]}

Charles, Perrine ^{[1
]}

Tallaksen, Chantal ^{[6
,7
]}

Forlani, Sylvie ^{[2
]}

Stevanin, Giovanni ^{[2
,8
]}

Brice, Alexis ^{[1
,2
]}

Durr, Alexandra ^{[1
,2
]}

机构：

[1] Pitie Salpetriere Univ Hosp, AP HP, Dept Genet, F-75013 Paris, France

[2] Univ Paris 06, Sorbonne Univ, UMR S 1127,Pitie Salpetriere Hosp, INSERM,U1127,CNRS,UMR 7225,ICM Brain & Spine Inst, F-75013 Paris, France

[3] Univ Paris 06, Sorbonne Univ, UMR S 1136, INSERM,U1136,Inst Pierre Louis Epidemiol & Sante, F-75013 Paris, France

[4] Grp Hosp Pitie Salpetriere, AP HP, Biostat Unit, F-75013 Paris, France

[5] CHRU Guy de Chauliac, Dept Neurol, Montpellier, France

[6] Univ Oslo, Dept Neurol, Oslo, Norway

[7] Univ Oslo, Fac Med, Oslo, Norway

[8] Ecole Prat Hautes Etud, Neurogenet Team, Inst Cerveau & Moelle Epiniere, F-75013 Paris, France

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2015年 / 2卷 / 02期

关键词：

MACHADO-JOSEPH-DISEASE; SPINOCEREBELLAR ATAXIAS; NATURAL-HISTORY; TYPE-1; SYMPTOMS;

D O I：

10.1002/acn3.156

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：202 / 207

页数：6

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