Amyotrophic lateral sclerosis & frontotemporal degeneration
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Amyotroph Lateral Scler Frontotemporal Degener · May 2017
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. ⋯ TARDBP and C9orf72 mutations in this cohort were similar to those found in other centres worldwide. VAPB mutation (P56S) was highly prevalent in Brazilian FALS patients.
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Amyotroph Lateral Scler Frontotemporal Degener · May 2017
Observational StudyPercutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study.
To assess the role of percutaneous endoscopic gastrostomy (PEG) insertion, and its timing, on ALS survival, and to study prognostic factors of survival before and after PEG placement in a population-based setting. ⋯ The present study, although it has some limitations, suggests a gain of tracheostomy-free survival from the time of PEG recommendation for patients who undergo PEG placement, and, among patients who undergo PEG, a greater survival if PEG is inserted before a significant weight loss occurs, and if nutritional support avoids further weight loss. Should this association between prevention of weight loss and better clinical outcome be confirmed by further studies, it would have important implications for disease management.
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Amyotroph Lateral Scler Frontotemporal Degener · Feb 2017
Correlation between Forced Vital Capacity and Slow Vital Capacity for the assessment of respiratory involvement in Amyotrophic Lateral Sclerosis: a prospective study.
Slow vital capacity (SVC) and forced vital capacity (FVC) are the most frequent used tests evaluating respiratory function in amyotrophic lateral sclerosis (ALS). No previous study has determined their interchangeability. ⋯ FVC and SVC were strongly correlated and declined similarly. This correlation was preserved in bulbar-onset ALS and in spastic PLS patients.
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Amyotroph Lateral Scler Frontotemporal Degener · Feb 2017
Initiation of non-invasive ventilation in amyotrophic lateral sclerosis and clinical practice guidelines: Single-centre, retrospective, descriptive study in a national reference centre.
In amyotrophic lateral sclerosis (ALS), respiratory muscle weakness leads to respiratory failure. Non-invasive ventilation (NIV) maintains adequate ventilation in ALS patients. NIV alleviates symptoms and improves survival. ⋯ Guidelines were followed in 81% of cases. In conclusion, despite compliance with French guidelines, the majority of patients are treated at the stage of symptomatic daytime hypoventilation, which suggests that NIV is initiated late in the course of ALS. Whether this practice could be improved by changing guidelines or increasing respiratory-dedicated resources remains to be determined.
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Amyotroph Lateral Scler Frontotemporal Degener · Oct 2016
Survival analysis of geospatial factors in the Irish ALS cohort.
Variations in environmental risk factors potentially influence incidence and progression in complex multifactorial diseases. Few studies have examined the association of survival in amyotrophic lateral sclerosis (ALS) with environmental geospatial variables. Here we use data from the Irish ALS cohort to perform such an analysis. ⋯ One thousand, two hundred and thirty-two patients with median survival of 2.31 years from disease onset were included. After addition of the individual geospatial variables in turn, none of the four variables was found to be associated with survival with a p-value <0.05. The results may reflect the public healthcare system that provides riluzole prescription and access to the MDT to all patients free of charge, and is also congruent with our recent finding that social deprivation is not associated with ALS incidence in Ireland.