In this respect patient 1 and 2 of our series underwent a videofluoroscopic swallowing examination, which resulted mildly impaired exclusively due to tongue weakness. Dysphagia remained stable over the years in our patients; this is also confirmed by BMI, which did not substantially change during the follow-up period. Our data confirm that tongue weakness and dysphagia may occur in adult-onset Pompe disease Inhibitors,research,lifescience,medical more
frequently than expected and need adequate investigations for early detection and management, being the most relevant symptoms in some cases. Bulbar involvement in patients affected by Pompe disease seems to be not associated with specific mutations, hence no genotype–phenotype correlation can be found. Globular selleck chemical inclusions detected in our patients represent a rare finding. Their appearance with menadione-linked alpha-glycerophosphate dehydrogenase was in accordance Inhibitors,research,lifescience,medical with reducing bodies definition.
However both the location in autophagic vacuoles and their electron density were not typical of classical reducing bodies, as observed also by Sharma and colleagues. Positivity to LAMP2 immunostaining suggests that globular inclusions should be considered mainly of lysosomal nature. However autophagic process could be concomitant, as several inclusions were also mildly positive to the markers of autophagy EEA1 and LC3. Globular Inhibitors,research,lifescience,medical inclusions in animal study glycogenosis type II have already been described in 6 unrelated patients (21-23), 3 in infancy and 3 in adult life. Two of them, including one adult-onset case, carried the c.IVS1-13T>G mutation, the same detected in our patients; in one infantile case molecular characterization Inhibitors,research,lifescience,medical was not available (21). The 3 patients with onset
in infancy presented with delay in motor development, followed by mild to moderate muscle weakness, while patients with adult onset had mildto- moderate proximal lower limb weakness, except one Inhibitors,research,lifescience,medical patient who was wheelchair bound and required NIV at the end of follow-up period (21-23). However no bulbar symptom was reported in these patients. In conclusion our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of a careful evaluation Anacetrapib of bulbar function in patients affected by this pathology Acknowledgements The study was supported by the Italian Ministry of Health. CB was supported by a grant of the Italian Glycogenosis Association.
Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal disease, characterized by degeneration of motor neurons. Around 5-10% of cases are considered to be familial (FALS) when the disease is present in both a proband and a first-degree or second-degree relative (1). FALS is usually inherited in an autosomal dominant manner, though there are rarer cases of autosomal recessive and X-linked disease.