The high incidence of dysphagia in patients with symptomatic gastroesophageal reflux (GER) but no evidence of peptic stricture suggests esophageal motor dysfunction. Conventional methods for detecting dysfunction (radiologic and manometric examinations) often fail to detect abnormality in these patients. Radionuclide transit (RT), a new method for detecting esophageal motor dysfunction, was use...

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder due to an expanded CAG/polyglutamine repeat in the coding region of the huntingtin (htt) gene that causes the preferential degeneration of striatal neurons. Although HD is classically considered a motor disorder, cognitive decline manifests even before the appearance of motor symptoms, and reflects the imp...

Parkinson’s disease (PD) is a chronic, progressive, neurodegenerative disorder characterized by motor and non-motor manifestations. The male/female PD ratio is 3:2, with PD incidence varying between 10 and 15 in 100,000 people. PD prevalence increases with age, occurring in 1.5–2% of the population older than 65 years of age and in 3–5% of that older than 85 years of age. Patients with advanced...

OBJECTIVES The aim of this study was to evaluate neurological and neurophysiological features of leprosy. METHODS Seventy seven hospitalized leprosy patients (52 male, 25 female) were examined neurological and neurophysiologically between 2010 and 2012. Standard procedures were performed for evaluating sensory and motor conduction studies to all patients. Motor studies were carried out on med...

Abstract Objective Huntington’s disease (HD) is a genetic neurodegenerative condition that characterized by cognitive, motor, and psychiatric dysfunction. The purpose of this study was to explore which characteristics influence caregiver burden in HD. Methods Fifty participants with HD 50 their caregivers participated the at University South Florida. Participants were administered neuropsycholo...

Pompe disease results from a defi ciency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal glycogen accumulation that impacts cardiac, respiratory and neuromuscular function. Respiratory failure is the leading cause of morbidity and mortality in Pompe patients. AAV vectors expressing GAA are currently being evaluated in a phase I/II study in ventilator-depe...

BACKGROUND Late-onset GM2 gangliosidosis (LGG) is a rare disease that is often considered in the differential diagnosis of adolescents and young adults who present with multiple realms of neurologic dysfunction. Cognitive disturbances are common but have not been systematically studied. OBJECTIVE To determine the natural history of cognitive dysfunction in patients with LGG. DESIGN Case ser...

The cerebellum has a well-established role in maintaining motor coordination and studies of cerebellar learning suggest that it does this by recognizing neural patterns, which it uses to predict optimal movements. Serious damage to the cerebellum impairs this learning and results in a set of motor disturbances called ataxia. However, recent work implicates the cerebellum in cognition and emotio...

The neuromuscular junction (NMJ) is responsible for transforming nervous system signals into motor behavior and locomotion. In the fruit fly Drosophila melanogaster, an age-dependent decline in motor function occurs, analogous to the decline experienced in mice, humans, and other mammals. The molecular and cellular underpinnings of this decline are still poorly understood. By specifically profi...