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Abstract #46551 Published in IGR 13-3

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

Corcia P; Praline J; Guennoc AM; Thepault RA; Gordon PH; Blasco H; Andres CR; Vourc'h P
Journal of the Neurological Sciences 2011;


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 75 year-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.

P. Corcia. Centre SLA, CHRU de Tours, Tours, France, .


Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)



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