title: Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma.
abstract: The optineurin (OPTN) gene, known to be implicated in primary open-angle glaucoma (POAG), is the more recent genetic factor linked to ALS. We report the case of a 75year-old man who developed ALS and whose medical history was dominated by a familial POAG. The absence of OPTN gene mutation in a patient who suffered from two conditions linked to mutations of this gene does not support involvement of OPTN in ALS.
authors.affiliation: Centre SLA, CHRU de Tours, Tours, France; UMR INSERM U930, Université François Rabelais de Tours, Tours, France. corcia@med.univ-tours.fr
authors.forename: P
authors.initials: P
authors.lastname: Corcia
authors.forename: J
authors.initials: J
authors.lastname: Praline
authors.forename: A M
authors.initials: AM
authors.lastname: Guennoc
authors.forename: R A
authors.initials: RA
authors.lastname: Thépault
authors.forename: P H
authors.initials: PH
authors.lastname: Gordon
authors.forename: H
authors.initials: H
authors.lastname: Blasco
authors.forename: C R
authors.initials: CR
authors.lastname: Andres
authors.forename: P
authors.initials: P
authors.lastname: Vourc'h
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D018797:Cell Cycle Proteins; D020868:Gene Silencing; D005902:Glaucoma, Open-Angle / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA