Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), International FTD-Genomics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium, The PROSPECT Consortium

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

15 Citeringar (SciVal)

Sammanfattning

Using large-scale whole-genome sequencing, Dewan et al. identify pathogenic HTT repeat expansions in patients diagnosed with FTD/ALS neurodegenerative disorders. Autopsies confirm the TDP-43 pathology expected in FTD/ALS and show polyglutamine inclusions within the frontal cortices but no striatal degeneration. These data broaden the phenotype resulting from HTT repeat expansions.

Originalspråkengelska
TidskriftNeuron
DOI
StatusPublished - 2020

Ämnesklassifikation (UKÄ)

  • Neurologi

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