Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

P Corcia; J Praline; A M Guennoc; R A Thépault; P H Gordon; H Blasco; C R Andres; P Vourc'h

doi:10.1016/j.jns.2011.07.044

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

J Neurol Sci. 2011 Oct 15;309(1-2):16-7. doi: 10.1016/j.jns.2011.07.044. Epub 2011 Aug 17.

Authors

P Corcia¹, J Praline, A M Guennoc, R A Thépault, P H Gordon, H Blasco, C R Andres, P Vourc'h

Affiliation

¹ Centre SLA, CHRU de Tours, Tours, France; UMR INSERM U930, Université François Rabelais de Tours, Tours, France. [email protected]

PMID: 21851955
DOI: 10.1016/j.jns.2011.07.044

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.

Publication types

Case Reports

MeSH terms

Aged
Amyotrophic Lateral Sclerosis / complications
Amyotrophic Lateral Sclerosis / diagnosis*
Amyotrophic Lateral Sclerosis / genetics*
Cell Cycle Proteins
Gene Silencing*
Glaucoma, Open-Angle / complications
Glaucoma, Open-Angle / diagnosis*
Glaucoma, Open-Angle / genetics*
Humans
Male
Membrane Transport Proteins
Mutation* / genetics
Transcription Factor TFIIIA / genetics*

Substances

Cell Cycle Proteins
Membrane Transport Proteins
OPTN protein, human
Transcription Factor TFIIIA