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Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington’s disease

2026-06-22

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<h4>ABSTRACT</h4> Huntington’s disease is a rare neurodegenerative disease whose primary risk factors are inherited expansions of a CAG repeat tract in the HTT gene. Somatic expansion of these tracts leads to neuronal toxicity, neuronal death and clinical disease progression. To identify genetic factors with a major impact on disease onset and progression, we genome sequenced 18,825 individuals for the ENROLL-HD...

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Literature Corpus work: fd0042a5-4a1c-552a-b178-784897978226
DOI: 10.64898/2026.06.16.26354747

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Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington’s diseaseDOI 10.64898/2026.06.16.26354747Read

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Rare loss-of-function variants in <i>POLD1, PMS1</i> and <i>FAN1</i> modify age at onset of motor symptoms in Huntington’s disease

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