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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of upper and lower motor neurons that affect respiratory muscles, the main is the diaphragm. The diaphragm ultrasound (DUS) allows a functional evaluation and needs less collaboration and coordination than respiratory functional tests (RFT). The aim of the study is to correlate DUS and RFT, to assess US as a specific method of diaphragm evaluation in ALS. The study enrolled 24 spinal ALS patients compared to 13 healthy controls. All patients underwent to RFT in upper and in supine position; Maximal Inspiratory and Expiratory Pressure, Maximal Sniff Nasal Inspiratory Pressure, Peak Cough Flow and DUS evaluation. It is identified ΔVC and ΔFVC measuring the difference of Vital Capacity (VC) and Forced Vital Capacity (FVC) in upper and supine position. DUS is performed to asses diaphragmatic excursion, diaphragmatic thickness at lung total capacity (LTC), at functional residual capacity (FRC) and thickening fraction (TF). Significant correlation was found between diaphragmatic excursion and FVC in upper (r=0.66; p=0.0004) and supine position (r=0.66; p Thickening fraction is not statistically significative in ALS patients compared to controls. Lung function impairment in ALS patients correlates to US diaphragmatic evaluation. ΔFVC, ΔVC and their correlation to the diaphragmatic motion showed a new and interesting data. DUS is a valid method when standard measurement are difficult to performe. This study represents a new step towards validation of DUS as a non volitional test in ALS patients.

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.