Nov 19, 2019

Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis

JAMA Neurology
Stella A GlasmacherSuvankar Pal

Abstract

The c9orf72 repeat expansion (c9 or c9orf72RE) confers a survival disadvantage in amyotrophic lateral sclerosis (ALS); its effect on prognosis in frontotemporal dementia (FTD) remains uncertain. Data on prognostic factors in c9orf72RE disorders could inform patient care, genetic counseling, and trial design. To examine prognostic factors in c9ALS, c9FTD, c9ALS-FTD, and atypical phenotypes. The MEDLINE, Embase, Amed, ProQuest, PsychINFO, CINAHL, and LILACS databases were searched between January 2011 and January 2019. Keywords used were c9orf72 and chromosome 9 open reading frame 72. Reference lists, citations of eligible studies, and review articles were also searched by hand. Studies reporting disease duration for patients with a confirmed c9orf72RE and a neurological and/or psychiatric disorder were included. A second author independently reviewed studies classified as irrelevant by the first author. Analysis began in January 2019. Data were extracted by 1 author; a further author independently extracted 10% of data. Data were synthesized in univariate and multivariable Cox regression and are displayed as hazard ratios (HR) and 95% confidence intervals. Survival after symptom onset. Overall, 206 studies reporting on 1060 pati...Continue Reading

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Mentioned in this Paper

Study
C9orf72 protein, human
Univariate Analysis
Meta Analysis (Statistical Procedure)
AKR1C1 wt Allele
Genetic Counseling
Motor Neurons
Patient Care
Amyotrophic Lateral Sclerosis
Protein TDP-43

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