Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Puech
Bernard
B
Service d'Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHRU de Lille, Lille Cedex, France. bpuech@nordnet.fr
Lacour
Arnaud
A
Stevanin
Giovanni
G
Sautiere
Bruno G
BG
Devos
David
D
Depienne
Christel
C
Denis
Elodie
E
Mundwiller
Emeline
E
Ferriby
Didier
D
Vermersch
Patrick
P
Defoort-Dhellemmes
Sabine
S
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
D011506:Proteins; C520412:SPG11 protein, human