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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 19, 2018 - Issue 5-6
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Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Cyril PottierDepartment of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA; ORCID Iconhttp://orcid.org/0000-0002-3049-9346View further author information
ORCID Icon,
Evadnie RampersaudDepartment of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN, USA, View further author information
,
Matt BakerDepartment of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA; View further author information
,
Gang WuDepartment of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN, USA, View further author information
,
Joanne WuuDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, View further author information
,
Jacob L. McCauleyDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, View further author information
,
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, View further author information
,
Rebecca SchuleDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany, ;German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany, View further author information
,
Christin BermudezDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, View further author information
,
Sumaira HussainDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, View further author information
,
Anne CooleyDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, View further author information
,
Marielle WallaceDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, View further author information
,
Jinghui ZhangDepartment of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN, USA, View further author information
,
J. Paul TaylorDepartment of Cell and Molecular Biology, St. Jude Children’s Research Hospital, Memphis, TN, USA, and ;Howard Hughes Medical Institute, Chevy Chase, MD, USAView further author information
,
Michael BenatarDepartment of Neurology University of Miami, Miller School of Medicine, Miami, FL, USA, Correspondence[email protected]
View further author information
&
Rosa RademakersDepartment of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA; Correspondence[email protected]
View further author information
 show all
Pages 469-471 | Received 02 Feb 2018, Accepted 05 Mar 2018, Published online: 20 Mar 2018

References

  • Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010;465:223–6.
  • Abrahams S, Newton J, Niven E, Foley J, Bak TH. Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2014;15:9–14.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Markovinovic A, Cimbro R, Ljutic T, Kriz J, Rogelj B, Munitic I. Optineurin in amyotrophic lateral sclerosis: multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms. Prog Neurobiol. 2017;154:1–20.
  • Tumer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, et al. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging. 2012;33:208e1–5.
  • Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, et al. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany. Neurobiol Aging. 2013;34:1516e9–5.
  • Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, et al. OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology. 2016;86:446–53.
  • Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015;347:1436–41.
  • Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol. 2015;130:77–92.
  • Beeldman E, van der Kooi AJ, de Visser M, van Maarle MC, van Ruissen F, Baas F. A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16:410–11.

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