№ files_lp_4_process_3_115806
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Tables presenting the frequency of the C9orf72 hexanucleotide repeat expansion in ALS, ALS/FTD, and FTD across multiple ethnogeographic cohorts, specifying familial and sporadic cases and the laboratory methods used for detection.
Year: 2012–2019
Region: Europe, North America, Asia, Australia, South America, Africa
Document Type: Supplementary Table
Subject: Genetic mutation frequency in neurodegenerative diseases
Lab Method: Repeat-primed PCR, PCR, Fragment length analysis, Genotyping-PCR, Short tandem repeat fragment length assay
Study References: Smit et al., 2013; Majounie et al., 2012c; Van der Zee et al., 2013; Tsai et al., 2012; Nel et al., 2019; Jang et al., 2013; Konno et al., 2013; Borghero et al., 2014; Cintra et al., 2018; Lysogorskaia et al., 2015; Masso et al., 2014; Zou et al., 2013
Population: European, Non-European, including specific ethnic groups
Sample Size: 1–1,727 per cohort
ALS Types: Familial ALS (fALS), Sporadic ALS (sALS)
FTD Types: ALS/FTD, Frontotemporal dementia (FTD), Sporadic FTD (sFTD)
Geographic Origin: Specific countries and ethnic groups as listed in the tables
Data Type: Incidence and proportion of C9orf72 HRE carriers among disease cohorts
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