Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing

Affiliations

¹ Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.

Holly Klepek et al. Neurol Genet. 2019.

. 2019 Jan 7;5(1):e301.

doi: 10.1212/NXG.0000000000000301. eCollection 2019 Feb.

¹ Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.

No abstract available

References

1. Wagner KN, Nagaraja HN, Allain DC, Quick A, Kolb SJ, Roggenbuck J. Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing. Mol Genet Genomic Med 2018;6:224–229. - PMC - PubMed
1. Vajda A, McLaughlin RL, Heverin M, et al. . Genetic testing in ALS: a survey of current practices. Neurology 2017;88:991–999. - PMC - PubMed
1. Andersen PM, Abrahams S, Borasio GD, et al. . EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. Eur J Neurol 2012;19:360–375. - PubMed
1. Akimoto C, Volk AE, van Blitterswijk M, et al. . A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 2014;51:419–424. - PMC - PubMed
1. Rollinson R, Bennison Callister J, Young K, et al. . A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD. Neurobiol Aging 2015;36:1601.e1–1601.e5. - PMC - PubMed