Jennifer C Durnall

TL;DR: The evidence suggests a pathophysiological link between TDP-43 and ALS, and neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases.

TL;DR: The clinical presentation in 49 affected patients was consistent with a predominantly lower motor neuron disorder, supported by post-mortem findings, and features of cortical hyperexcitability demonstrated upper motor neuron involvement consistent with other forms of familial and sporadic ALS.

TL;DR: Importantly, features of cortical hyperexcitability were apparent in C9ORF72-linked familial ALS as demonstrated by significant reduction in short interval intracortical inhibition and cortical silent period duration along with an increase in intracORTical facilitation and motor evoked potential amplitude, indicating that cortical hypeRexcitability is an intrinsic process in C 9ORF 72-linked ALS.

TL;DR: Mutation analysis of TARDBP was performed in an Australian cohort of 74 sporadic and 30 familial ALS cases and a novel familial ALS mutation in TDP-43 was identified that substitutes a highly conserved residue (G294V) and is predicted to disrupt the glycine rich domain in the C terminus.

TL;DR: A novel MND/HMN locus is identified on chromosome 7q34-q36 following a genome-wide scan for linkage in a large family with a MND that was previously described as juvenile ALS and distal HMN.