title: Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
authors.affiliation: Service d'Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHRU de Lille, Lille Cedex, France. bpuech@nordnet.fr
authors.forename: Bernard
authors.initials: B
authors.lastname: Puech
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lacour
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Bruno G
authors.initials: BG
authors.lastname: Sautiere
authors.forename: David
authors.initials: D
authors.lastname: Devos
authors.forename: Christel
authors.initials: C
authors.lastname: Depienne
authors.forename: Elodie
authors.initials: E
authors.lastname: Denis
authors.forename: Emeline
authors.initials: E
authors.lastname: Mundwiller
authors.forename: Didier
authors.initials: D
authors.lastname: Ferriby
authors.forename: Patrick
authors.initials: P
authors.lastname: Vermersch
authors.forename: Sabine
authors.initials: S
authors.lastname: Defoort-Dhellemmes
mesh_terms: D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D012189:Retrospective Studies; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D011506:Proteins; C520412:SPG11 protein, human