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Article

Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat Expansion

13 Feb 2017

Abstract excerpt

Importance: Patients carrying a C9orf72 repeat expansion leading to frontotemporal dementia and/or amyotrophic lateral sclerosis have highly variable ages at onset of disease, suggesting the presence of modifying factors. Objective: To provide clinical-based evidence for disease anticipation in families carrying a C9orf72 repeat expansion by analyzing age at onset, disease duration, and age at death in successive...

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PMID: 28192553
DOI: 10.1001/jamaneurol.2016.4847

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