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Article

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

Human molecular genetics - 8 Nov 2024

Roos Anna-Karin, Stenvall Erica, Kockum Emmy Skelton, Grönlund Kornelia Åman, Alstermark Helena, Wuolikainen Anna, Andersen Peter M, Nordin Angelica, Forsberg Karin M E

Abstract excerpt

Short tandem repeat expansions in the human genome are overrepresented in a variety of neurological disorders. It was recently shown that huntingtin (HTT) repeat expansions with full penetrance, i.e. 40 or more CAG repeats, which normally cause Huntington's disease (HD), are overrepresented in patients with amyotrophic lateral sclerosis (ALS). Whether patients carrying HTT repeat expansions with reduced...

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Identifiers

PMID: 39270726
DOI: 10.1093/hmg/ddae137
PMCID: PMC11555821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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