THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Background: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families.

Methods: We sequenced the THAP1 gene in a series of 362 British, genetically undetermined, primary dystonia patients (78 with focal, 186 with segmental, and 98 with generalized dystonia) and in 28 dystonia-manifesting DYT1 patients and 176 normal control individuals.

Design of a new somatosensory stimulus delivery device for measuring laryngeal mechanosensory detection thresholds in humans.

Laryngeal control is essential for airway protection, breathing, deglutition, speech, and voice. Unfortunately, integration of laryngeal sensory assessment in research and clinical practice is limited by technical and practical limitations of commercially available technology. A commercial device is available, but reported limitations include procedural complexity requiring two or three individuals to operate, limited stimulus dynamic range, device generated noise, and questionable stimulus reproducibility.

Rabeprazole: a pharmacologic and clinical review for acid-related disorders.

Rabeprazole is a proton pump inhibitor that can be used in the treatment of acid-peptic-related disorders (gastroesophageal reflux disease [GERD], duodenal ulcer, gastric ulcer, gastric acid hypersecretory syndromes) and Helicobacter pylori. Pharmacodynamic data has demonstrated that rabeprazole, with a high pKa of approximately 5.0, can be activated at a higher pH than other proton pump inhibitors.

Swallowing disorders in the elderly.

Changes that occur as a natural part of senescence in the complex action of deglutition predispose us to dysphagia and aspiration. As the "baby-boomers" begin to age, the onset of swallowing difficulties will begin to manifest in a greater number of our population. Recent advances in the evaluation of normal and abnormal swallowing make possible more precise anatomical and physiological diagnoses.

Aerodynamic measurements of patients with Parkinson's disease.

Patients with Parkinson's disease commonly complain of voice dysfunction. Most of these complaints can be attributed to the known muscular control disorders that occur with Parkinson's disease. However, the manifestations of Parkinson's disease muscular dysfunction on parameters of phonation such as airflow, laryngeal resistance, and subglottal pressure necessary to sustain phonation have not been reported.

[Laryngeal manifestations in patients with Parkinson disease].

Background: Impairments of articulation, respiration, and phonation are a common symptom of Parkinson's disease and may result in reduced communication. Previous observations have shown a high incidence of laryngeal abnormalities. However, no relevant data were available for gender differences of laryngeal abnormalities in Parkinson's disease.

Laryngeal deglutition movement in Parkinson's disease.

Laryngeal muscle function is defective in Parkinson's disease (PD) patients; the intrinsic group (vocal cords) is defective during phonation and the extrinsic group (laryngeal strap muscles) is slow during deglutition. There are no studies of vocal cord motility during deglutition in PD. We investigated laryngeal motility during deglutition in 71 patients with PD in a videofluoroscopic swallowing study.

Botulinum toxin injection into vocal cord in the treatment of malignant coprolalia associated with Tourette's syndrome.

We describe a 13-year-old boy with Tourette's syndrome (TS) manifested chiefly by severe coprolalia, obsessive compulsive disorder, and attention deficit hyperactivity disorder. He was treated with unilateral injections of botulinum toxin to the vocal cord and experienced marked improvement in coprolalia as well as marked reduction in the premonitory urges associated with the vocal tics and coprolalia. As a result of the improvement, the patient was able to attend school and church and was able to socialize.

[Vocal cord abductor paralysis in multiple system atrophy--paradoxical movement of vocal cords during sleep].

Bilateral vocal cord abductor paralysis (VCAP) is frequently associated with multiple system atrophy (MSA) and the early clinical manifestation of VCAP is nocturnal inspiratory stridor simulating heavy snoring observed in patients with obstructive sleep apnea syndrome. We examined six MSA patients with nocturnal stridor and four disease controls including sleep apnea syndrome. Vocal cord movements were analyzed by laryngofiberscopy during both wakefulness and sleep induced by intravenous administration of diazepam.

Central autonomic disorders.

Central autonomic dysfunctions can be due to primary (degenerative) or secondary disorders. Autonomic failure (AF) may be a major manifestation of multiple system atrophy (MSA) and idiopathic Parkinson's disease (IPD). In both MSA and IPD, AF is almost invariably associated with neuronal loss in the intermediolateral cell columns.

Acceleration and weakness in parkinsonian dysarthria.

This report presents some of the underlying neuromuscular mechanisms of dysarthric speech production as they are manifested in selected individuals with parkinsonism. Earlier explanations of parkinsonian dysarthria emphasized that the balanced hypertonus of rigidity formed the basis of reduced range of movements in speech. The present data reveal two problems in the neuromuscular control signals that can result in a reduced range of speech movements in the absence of rigidity.