C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Introduction

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder with short survival, mainly due to respiratory failure.1 2 A pathological repeat expansion in the C9orf72 gene is observed in about 10% of the European ALS population and is associated with a worse prognosis.2 3 Still, the exact function of this gene is unknown.

To understand the role of the C9orf72 expansion in disease prognosis, we tested the impact of this mutation on the respiratory function in ALS.

MethodsPatients

We studied 372 consecutive patients with ALS (according to the revised El Escorial and Awaji criteria) followed in our centre between 2000 and 2017. No patient was on non-invasive ventilation (NIV) or gastrostomized at study entry. All patients were treated with riluzole.

Demographic and clinical data were collected and C9orf72 expansion was determined. Patients were evaluated at entry and, at least, at two subsequent time...

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