Dominic B. Rowe

Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis

Zoe N Zussa, Andrew N. Smith, Joke JFA van Vugt, Daniel S. O’Shaughnessy et autres

A pathogenic GGC repeat expansion in zinc finger homeobox 3 (ZFHX3), encoding a pure polyglycine (polyG) tract, causes spinocerebellar ataxia type 4 (SCA4). Intermediate expansions of other SCA loci have been implicated in amyotrophic lateral sclerosis (ALS), while repeat motif composition is …

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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

Paul J. Hop, Maarten Kooyman, Brendan Kenna, Ramona A.J. Zwamborn et autres

Amyotrophic lateral sclerosis (ALS) is a heritable disorder where rare variants with low-to-moderate penetrance are thought to dominate genetic risk. To identify such rare variants, we harmonized and analyzed exome data from 22 cohorts, totaling 17,919 individuals with ALS and 200,703 controls …

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Dick Schijven 1, Remi Stevelink 2, Mark McCormack 3, Wouter van Rheenen 4 et autres

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no …