Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

Holly A. Black, Danielle J. Leighton, Elaine M. Cleary, Elaine Rose, Laura Stephenson, Shuna Colville, David Ross, Jon Warner, Mary Porteous, George H. Gorrie, Robert Swingler, David Goldstein, Matthew B. Harms, Peter Connick, Suvankar Pal, Timothy J. Aitman, Siddharthan Chandran

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant. Loss-of-function variants were found in TBK1 in 3 cases and no controls and, separately, in NEK1 in 3 cases and no controls. This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population.
Original languageEnglish
Pages (from-to)178.e11-178.e20
Number of pages10
JournalNeurobiology of Aging
Early online date21 Dec 2016
Publication statusPublished - 31 Mar 2017


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