Intermediate Repeat Expansion in the Gene as a Risk Factor in the ALS and FTD Spanish Population.

Intermediate CAG expansions in the gene ataxin-2 () are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the risk and phenotype of patients might vary in populations with different genetic backgrounds. The aim of this study was to assess the relationship of intermediate CAG expansions in with the risk and phenotype of ALS and FTD in the Spanish population.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Objective: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness.

Methods: This retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD.

Results: We studied 119 patients with COL6-RD from Spain (n = 54) and the United States (n = 65).

Evaluation of Dysphagia in Motor Neuron Disease. Review of Available Diagnostic Tools and New Perspectives.

Oropharyngeal dysphagia (OD) is highly prevalent (up to 80%) in patients with motor neuron disease (MND), influencing the prognosis of the disease. The clinical assessment of dysphagia is complex. There are assessment scales and screening questionnaires, but they have not been tested in patients with MND.