New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay-Reference-Cited by-同舟云学术

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Published:2015-11-14 Issue:6 Volume:78 Page:871-886
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Pilliod Julie¹,Moutton Sébastien¹²,Lavie Julie¹,Maurat Elise¹,Hubert Christophe³,Bellance Nadège¹,Anheim Mathieu⁴⁵⁶,Forlani Sylvie⁷,Mochel Fanny⁷⁸,N'Guyen Karine⁹,Thauvin-Robinet Christel¹⁰,Verny Christophe¹¹,Milea Dan¹²,Lesca Gaëtan¹³,Koenig Michel¹⁴,Rodriguez Diana¹⁵¹⁶¹⁷,Houcinat Nada²,Van-Gils Julien²,Durand Christelle M.¹,Guichet Agnès¹⁸,Barth Magalie¹⁸,Bonneau Dominique¹⁸,Convers Philippe¹⁹,Maillart Elisabeth²⁰,Guyant-Marechal Lucie²¹,Hannequin Didier²¹,Fromager Guillaume²²,Afenjar Alexandra¹⁵²³,Chantot-Bastaraud Sandra¹⁵²³,Valence Stéphanie¹⁵¹⁷,Charles Perrine⁷,Berquin Patrick²⁴,Rooryck Caroline¹²,Bouron Julie²,Brice Alexis⁷⁸,Lacombe Didier¹²,Rossignol Rodrigue¹,Stevanin Giovanni⁷⁸²⁵,Benard Giovanni¹,Burglen Lydie¹⁵¹⁶²³,Durr Alexandra⁷⁸,Goizet Cyril¹²,Coupry Isabelle¹

Affiliation:

1. Rare Diseases Laboratory: Genetics and Metabolism; University of Bordeaux; Bordeaux France

2. Medical Genetics Service, Pellegrin University Hospital Center; Bordeaux France

3. Functional Genomics Center, University of Bordeaux; Bordeaux France

4. Neurology Service, Strasbourg University Hospitals; Strasbourg France

5. Molecular Cell Biology Genetics Institute, INSERM U964/CNRS UMR7104, University of Strasbourg; Illkirch-Graffenstaden France

6. Strasbourg Federation of Translational Medicine; University of Strasbourg; Illkirch-Graffenstaden France

7. Genetics Service, Pitié-Salpêtrière Hospital; Public Hospital Network of Paris; Paris France

8. Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University; Paris France

9. Department of Medical Genetics; Timone Hospital; Marseille France

10. Genetics Center, Dijon University Hospital Center; Dijon France

11. Nantes Angers le Mans University and Neurology Service, CNRS UMR6214, INSERM U1083, University Hospital Center; Angers France

12. Ophthalmology Service, Angers University Hospital Center, Angers, France and Singapore National Eye Centre, Singapore Eye Research Institute, Duke-National University of Singapore; Singapore

13. Genetics Service, Lyon University Hospital Center; Lyon France

14. Molecular Genetics Laboratory, INSERM U827; Montpellier Regional University Hospital Center; Montpellier France

15. Rare Diseases Reference Center “Defects and Congenital Diseases of the Cerebellum,” Armand Trousseau Hospital, Public Hospital Network of Paris; Paris France

16. Robert Debré Hospital, INSERM U1141; Paris France

17. Genetics Service, Armand Trousseau Hospital; Public Hospital Network of Paris; Paris France

18. Neuropediatrics Service, Armand Trousseau Hospital; Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University; Paris France

19. Nantes Angers le Mans University and Department of Biochemistry and Genetics; University Hospital Center; Angers France

20. Clinical Neurophysiology Service, Saint-Étienne University Hospital Center; Saint-Étienne France

21. Neurology Service, Pitié-Salpêtrière Hospital; Public Hospital Network of Paris; Paris France

22. Clinical Genetics Unit, Rouen University Hospital Center; Rouen France

23. Neurologist; Caen France

24. Amiens University Hospital Center, Pediatric Neurology Activity Center; Amiens France

25. Laboratory of Neurogenetics, Practical School of Higher Studies; Paris France

Funder

French National Agency for Research

French Ministry of Health

Verum Foundation, Roger de Spoelberch Foundation, Rare Diseases Foundation, Strumpell-Lorrain Association

Know the Cerebellar Syndromes Association, Association against Mitochondrial Diseases, and National Union of the Blind and Visually Impaired

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24509/fullpdf

Reference42 articles.

1. Novel compound heterozygous mutations in sacsin-related ataxia;Yamamoto;J Neurol Sci,2005

2. Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Takiyama;Neuropathology,2006

3. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia;Vermeer;Neurogenetics,2008

4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum;Synofzik;Orphanet J Rare Dis,2013

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