⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

April 9, 2024Neurology

Association of Intermediate HTT CAG Repeats with Increased Risk and Disease Severity in Amyotrophic Lateral Sclerosis (P5-11.003)

Maurizio Grassano Antonio Canosa Lucia Corrado Sandra D’Alfonso Umberto Manera Rosario Vasta Emanuele Koumantakis Giorgia Brodini Francesca Palumbo Cristina Moglia Ruth Chia Letizia Mazzini Andrea Calvo Sonja W. Scholz Bryan J. Traynor Adriano Chiò

View Full Paper

Ask AI

Bookmark

Share

Abstract

This study investigates the frequency of intermediate HTT CAG expansions in ALS patients relative to healthy controls, thereby determining their contribution to ALS pathogenesis. Their effect on ALS phenotype and disease progression was also evaluated.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Grassano et al. (2024) studied this question.

synapsesocial.com/papers/68e6fdb8b6db643587678240 https://doi.org/10.1212/wnl.0000000000205230

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1The HTT gene influences plasma neurofilament light chain and brain metabolism in prodromal Alzheimer’s disease2025
2Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriersOriginal Research · 2025
3Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions2024 · 5 citations
4Huntingtin <scp>CAG</scp> repeats in neuropathologically confirmed tauopathies: Novel insights2024 · 8 citations
5Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype2024 · 14 citations