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

Miltenberger-Miltenyi, Gabriel; Conceição, Vasco A.; Gromicho, Marta; Pronto Laborinho, Ana Catarina; Pinto, Susana; Andersen, Peter Munch; Carvalho, Mamede

http://hdl.handle.net/10451/52300

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Autores

Miltenberger-Miltenyi, Gabriel

Conceição, Vasco A.

Gromicho, Marta

Pronto Laborinho, Ana Catarina

Pinto, Susana

Andersen, Peter Munch

Carvalho, Mamede

Resumo(s)

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder with short survival, mainly due to respiratory failure. 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. 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.