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• W4302024491 endingPage "120450" @default.
• W4302024491 startingPage "120450" @default.
• W4302024491 abstract "The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been associated with Huntington disease (HD)-like syndromes and rarely with Parkinson's disease (PD) and Alzheimer's disease (AD). In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic paraplegia, HSP) and 321 controls were tested for the C9ORF72 repeat expansion. Forty-nine patients with ALS (10.5%), 2 with HD-like syndromes (3.8%), 13 with FTD (11.5%), 1 with AD (1.6%), and 2 with PD (1.1%) were expansion-positive. The expansion was not detected in the HSP or control groups. The results of this study provide an update on the spectrum of C9ORF72-related neurodegenerative diseases, emphasizing the importance of C9ORF72 genetic testing in Greek patients with familial and sporadic ALS and/or FTD and HD-like syndromes." @default.
• W4302024491 created "2022-10-06" @default.
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• W4302024491 date "2022-11-01" @default.
• W4302024491 modified "2023-09-26" @default.
• W4302024491 title "Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population" @default.
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• W4302024491 doi "https://doi.org/10.1016/j.jns.2022.120450" @default.
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• W4302024491 hasPublicationYear "2022" @default.
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