Open AccessLoss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
Author(s) -
Giulia Coarelli,
Rebecca Schüle,
B.P.C. van de Warrenburg,
Peter De Jonghe,
Claire Ewenczyk,
Andrea Martinuzzi,
Matthis Synofzik,
Elisa E.G. Hamer,
Jonathan Baets,
Mathieu Anheim,
Lüdger Schöls,
Tine Deconinck,
Pegah Masrori,
Bertrand Fontaine,
Thomas Klockgether,
Maria Grazia D’Angelo,
Marie Lorraine Monin,
Jan De Bleecker,
Isabelle Migeotte,
Perrine Charles,
Maria Teresa Bassi,
Thomas Klopstock,
Fanny Mochel,
Elisabeth OllagRoman,
Marc D’Hooghe,
Christoph Kamm,
Delia Kurzwelly,
Mélanie Papin,
Claire Sophie Davoine,
Guillaume Banneau,
Sophie Tezenas du Montcel,
Danielle Seilhean,
Alexis Brice,
Charles Duyckaerts,
Giovanni Stevanin,
Alexandra Dürr
Publication year - 2019
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000007606
Subject(s) - medicine , ataxia , cohort , sensory loss , gastroenterology , pediatrics , surgery , psychiatry
We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 ( SPG7 ).