Grima N, Henden L, Fearnley LG, Rowe DB, D'Silva S, Pamphlett R, Adams L, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Bahlo M, Blair IP, Williams KL. “NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.” Neurobiology of Aging 116, 92-95

The largest known genetic contributor to MND is a short tandem repeat (STR) expansion in the C9orf72 gene. Recently, two novel STR expansions in the NEK1 and STMN2 genes were reported to be associated with sporadic MND risk and/or clinical phenotype. In this publication we examined the NEK1 and STMN2 STRs in a cohort of 608 Australian sporadic MND cases and 4,689 controls. Contrary to the original publications, we report that the NEK1 and STMN2 STR lengths were not associated with MND risk, age of onset or disease duration in this Australian sporadic MND cohort. This work highlights the importance of replication studies for the identification of bona fide genetic markers for sporadic MND.

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