<scp>SOD</scp>1 mutation can mask C9<scp>orf</scp>72 abnormal expansion

Corcia, Philippe; Blasco, Hélène; Besson, Gérard; Camdessanché, Jean‐Philippe; Pautot, Vivien; Beltran, S.; Couratier, Philippe; Andres, Christian R.; Camu, William; Vourc’h, Patrick

doi:10.1111/ene.13257

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“…Disagreements between reviewers were resolved by consensus, and κ statistics were used to calculate interobserver variability between reviewers. Corresponding study authors were contacted to provide clarification of data: authors of 7 studies were contacted, of whom 6 kindly responded . Disease phenotype was classified into c9ALS, c9FTD, c9ALS-FTD, and atypical based on clinical diagnosis or on neuropathological diagnosis where clinical diagnosis was not reported (21 of 1060 [1.98%]).…”

Section: Methodsmentioning

confidence: 99%

Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers

et al. 2020

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The c9orf72 repeat expansion (c9 or c9orf72 RE) confers a survival disadvantage in amyotrophic lateral sclerosis (ALS); its effect on prognosis in frontotemporal dementia (FTD) remains uncertain. Data on prognostic factors in c9orf72 RE disorders could inform patient care, genetic counseling, and trial design. OBJECTIVE To examine prognostic factors in c9ALS, c9FTD, c9ALS-FTD, and atypical phenotypes.

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Section: Methodsmentioning

confidence: 99%