Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

The current research paradigm for Huntington's disease is based on participants with overt
clinical phenotypes and does not address its pathophysiology nor the biomarker changes …

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted
HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment …

We describe a novel computational method for genotyping repeats using sequence graphs.
This method addresses the long-standing need to accurately genotype medically important …

The age at onset of motor symptoms in Huntington's disease (HD) is driven by HTT CAG
repeat length but modified by other genes. In this study, we used exome sequencing of 683 …

Background Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion
encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders,
presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse …

Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat
tracts, which can expand into the hundreds in neurons, explains clinical outcomes better …