Amyotrophic lateral sclerosis & frontotemporal degeneration
-
Amyotroph Lateral Scler Frontotemporal Degener · Aug 2018
Multicenter StudyUnderstanding the use of NIV in ALS: results of an international ALS specialist survey.
To identify common practices of noninvasive ventilation (NIV) use among ALS specialists and how they follow respiratory status in their patients. ⋯ Given the impact of NIV on respiratory function and the importance of respiratory function to quality of life and survival, understanding differences that influence NIV prescribing is critical. This information may inform future study design and identify areas warranting additional research to develop best practices for NIV implementation.
-
Amyotroph Lateral Scler Frontotemporal Degener · Aug 2018
Phenotypic and genotypic studies of ALS cases in ALS-SMA families.
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. ⋯ While the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance.