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Fibroblasts carrying intermediate <i>C9orf72</i> hexanucleotide repeat expansions from iNPH patients show impaired energy metabolism but no cell pathologies

2024-06-01

Abstract excerpt

Long C9orf72 hexanucleotide repeat expansions (C9-HRE) are the most common genetic cause of frontotemporal dementia (FTD), a group of neurodegenerative syndromes leading to cognitive dysfunction and frontal and temporal atrophy. FTD is a potential comorbidity of idiopathic normal pressure hydrocephalus (iNPH) and carrying the C9-HRE can modify the age-of-onset in iNPH patients. While intermediate-length C9-HRE (<...

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Literature Corpus work
dc3a3845-766c-53b3-8a81-008162b5b73c
DOI
10.1101/2024.05.28.595117
Open publication

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Fibroblasts carrying intermediate <i>C9orf72</i> hexanucleotide repeat expansions from iNPH patients show impaired energy metabolism but no cell pathologiesDOI 10.1101/2024.05.28.595117
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