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

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):118-120. doi: 10.1136/jnnp-2018-318032. Epub 2018 Apr 16.

Authors

Gabriel Miltenberger-Miltenyi¹, Vasco A Conceição¹, Marta Gromicho¹, Ana Catarina Pronto-Laborinho¹, Susana Pinto¹, Peter M Andersen², Mamede de Carvalho^{1

3}

Affiliations

¹ Physiology Institute, Faculty of Medicine, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal.
² Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
³ Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal.

PMID: 29661924
DOI: 10.1136/jnnp-2018-318032

No abstract available

Keywords: ALS; C9orf; respiratory medicine.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Aged
Amyotrophic Lateral Sclerosis / complications
Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / physiopathology
C9orf72 Protein / genetics*
DNA Repeat Expansion
Delayed Diagnosis
Disease Progression
Female
Humans
Male
Middle Aged
Prognosis
Respiratory Insufficiency / etiology
Respiratory Insufficiency / physiopathology*
Survival Rate
Vital Capacity

Substances

C9orf72 Protein
C9orf72 protein, human