Article
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2018
Pottier Cyril, Rampersaud Evadnie, Baker Matt, Wu Gang, Wuu Joanne, McCauley Jacob L, Zuchner Stephan, Schule Rebecca, Bermudez Christin, Hussain Sumaira, Cooley Anne, Wallace Marielle, Zhang Jinghui, Taylor J Paul, Benatar Michael, Rademakers Rosa
Abstract excerpt
Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous...
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