Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review.

Background And Objectives: Antiglycine receptor (anti-GlyR) antibody mediates multiple immune-related diseases. This study aimed to summarize the clinical features to enhance our understanding of anti-GlyR antibody-related disease.

Methods: By collecting clinical information from admitted patients positive for glycine receptor (GlyR) antibody, the clinical characteristics of a new patient positive for GlyR antibody were reported in this study.

The Effect of Oropharyngeal Resting Tremor on Swallowing Function in a Clinical Cohort of People with Parkinson's Disease.

Parkinson's Disease (PD) is a progressive neurodegenerative disease, with hallmark symptomology typically consisting of tremor, bradykinesia, and rigidity. Though the classic "pill-rolling" rest tremor in the hand or upper limb are often the most salient, it can occur throughout the body including the lower limbs, jaw, face, or tongue. There have been investigations into other motor related phenomena potentially affecting swallow function in PwPD previously.

Laryngeal symptoms related to motor phenotypes in Parkinson's disease: A systematic review.

Objective: This study aimed to systematically review the associations between motor clinical phenotypes in Parkinson's disease (PD) and laryngeal disease symptoms. Laryngeal dysfunctions such as dysphonia and dysphagia are ubiquitous in people with Parkinson's disease (PwPD). Similar to other disease symptoms, they manifest variably across PwPD.

Thyroarytenoid Oxidative Metabolism and Synaptic Signaling Dysregulation in the Female Pink1-/- Rat.

Objectives And Hypothesis: Vocal dysfunction, including hypophonia, in Parkinson disease (PD) manifests in the prodromal period and significantly impacts an individual's quality of life. Data from human studies suggest that pathology leading to vocal deficits may be structurally related to the larynx and its function. The Pink1-/- rat is a translational model used to study pathogenesis in the context of early-stage mitochondrial dysfunction.

Dysphagia Presentation, Airway Invasion, and Gender Differences in a Clinically Based Sample of People with Parkinson's Disease.

Dysphagia in People with Parkinson's Disease (PWPD) is expected to occur in most individuals. The manifestation of dysphagia and its salient swallow dysfunction characteristics leading to decreased airway safety are not well understood. The aim of this study was to quantify dysphagia presentation and severity, examine contributors to airway invasion, and explore gender differences in dysphagia manifestation in PWPD.

Thyroarytenoid Muscle Gene Expression in a Rat Model of Early-Onset Parkinson's Disease.

Objectives/hypothesis: Voice disorders in Parkinson's disease (PD) are early-onset, manifest in the preclinical stages of the disease, and negatively impact quality of life. The complete loss of function in the PTEN-induced kinase 1 gene (Pink1) causes a genetic form of early-onset, autosomal recessive PD. Modeled after the human inherited mutation, the Pink1-/- rat demonstrates significant cranial sensorimotor dysfunction including declines in ultrasonic vocalizations.

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed.

Acoustic Analysis of Intonation in Persons With Parkinson's Disease Receiving Transcranial Magnetic Stimulation and Intensive Voice Treatment.

Intonation is one of the prosodic features manifested acoustically in the fundamental frequency (f0). Intonation abnormality is common and prominent in the speech of persons with Parkinson's disease (PD). The current research investigated acoustically five intonational features including f0 declination, f0 resetting, sentence stress, terminal fall, and syntactic prejunctural fall in 20 PD participants, receiving Lee Silverman Voice Treatment (LSVT)-LOUD alone, or combined with transcranial magnetic stimulation delivered to the left or right primary laryngeal motor cortex.

[Two Cases of Parkinson's Disease Accompanied with Nasogastric Tube Syndrome].

We report 2 cases of patients with Parkinson's disease who exhibited bilateral vocal cord paralysis induced by an indwelling nasogastric tube (N-G tube). Both patients showed abrupt inspiratory stridor after N-G tube placement. A fiberoptic laryngeal examination revealed bilateral vocal cord abductor paralysis (VCAP).

Predicting Airway Invasion Using Screening Tools and Laryngeal Kinematics in People with Parkinson's Disease: A Pilot Study.

Background: Dysphagia in Parkinson's disease (PD) is a common manifestation, particularly in advanced disease stages. However, the pathophysiology and time course of dysphagia progression remains unclear in non-advanced disease stages (e.g.

Changes to Ventilation, Vocalization, and Thermal Nociception in the Pink1-/- Rat Model of Parkinson's Disease.

Background: Individuals with Parkinson's disease (PD) experience significant vocal communication deficits. Findings in the Pink1-/- rat model of early-onset PD suggest that ultrasonic vocal communication is impaired early, progressively worsens prior to nigrostriatal dopamine depletion, and is associated with loss of locus coeruleus neurons, brainstem α-synuclein, and larynx pathology. Individuals with PD also demonstrate ventilatory deficits and altered sensory processing, which may contribute to vocal deficits.

Regulation of Transglottal Airflow in Speakers With Parkinson's Disease.

The purpose of this study was to investigate how speakers with Parkinson's disease (PD) regulate transglottal airflow during phonation within and across breath groups, compared to healthy older adult (HOA) speakers. Aerodynamic recordings from 22 speakers with PD and 22 HOA speakers were compared. Transglottal airflow was measured from vocalic portions of consonant-vowel syllables and an all-voiced sentence using a pneumotachograph.

The Shaking Palsy of the Larynx-Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review.

In its early stages multiple system atrophy (MSA), a neurodegenerative movement disorder, can be difficult to differentiate from idiopathic Parkinson's disease (PD), and emphasis has been put on identifying premotor symptoms to allow for its early identification. The occurrence of vegetative symptoms in addition to motor impairment, such as orthostatic hypotension and neurogenic bladder dysfunction, enable the clinical diagnosis in the advanced stages of the disease. Usually with further disease progression, laryngeal abnormalities become clinically evident and can manifest in laryngeal stridor due to impaired vocal fold motion, such as vocal fold abduction restriction, mostly referred to as vocal fold paresis, or paradoxical vocal fold adduction during inspiration.

Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia.

Background: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.

Relationship Between Swallowing Function and Maximum Phonation Time in Patients With Parkinsonism.

Objective: To identify the relationship between maximum phonation time (MPT) and swallowing function, as well as the elements of swallowing, in order to provide a rationale for speech therapy in patients with Parkinsonism manifesting dysphagia.

Methods: Thirty patients with Parkinsonism who underwent speech evaluation and videofluoroscopic swallowing study (VFSS) were recruited. The MPT, the longest periods of sustained pronunciation of /aa/, was evaluated.

The Effect of Parkinson Disease Tremor Phenotype on Cepstral Peak Prominence and Transglottal Airflow in Vowels and Speech.

Objectives: The physiological manifestations of Parkinson disease are heterogeneous, as evidenced by disease subtypes. Dysphonia has been well documented as an early and progressively significant impairment associated with the disease. The purpose of this study was to investigate how acoustic and aerodynamic measures of vocal function were affected by Parkinson tremor subtype (phenotype) in an effort to better understand the heterogeneity of voice impairment severity in Parkinson disease.

Levodopa reverse stridor and prevent subsequent endotracheal intubation in Parkinson disease patients with bilateral vocal cord palsy: A case report.

Background: Respiratory abnormalities are often overlooked; however, because of their potential comorbidity, they must be analyzed to determine the most effective treatment for patients with Parkinson disease (PD). Among various theories on respiratory abnormalities in PD, "upper airway obstruction" and "restrictive respiratory disorders" are 2 of the most accepted etiologies; both appear to be related to basal ganglia dysfunction. Complex vocal cord muscle dysfunction contributes to stridor, which can be a manifestation of nigrostriatal dopaminergic dysfunction.

Clinical and genetic features of cervical dystonia in a large multicenter cohort.

Objective: To characterize the clinical and genetic features of cervical dystonia (CD).

Methods: Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale.

An update on the use of botulinum toxin therapy in Parkinson's disease.

Botulinum toxin (BoNT) has gained widespread use in a variety of neurological conditions. Parkinson's disease is a complex neurodegenerative disorder manifested by motor and non-motor symptoms that can cause significant disability. BoNT has been used to effectively treat a variety of symptoms related to Parkinson's disease.

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos.

Surgical management of airway dysfunction in Parkinson's disease compared with Parkinson-plus syndromes.

Objectives: We sought to compare the laryngeal symptoms of Parkinson's disease (PD) with those of multiple system atrophy (MSA), a Parkinson-plus syndrome; to review the differences in surgical management of upper airway dysfunction between patients with PD and those with MSA; and to present a treatment algorithm for management of upper airway disorders in patients with PD and MSA.

Methods: We analyzed the airway manifestations of each disease, including clinical and physiological test results and management outcomes, in a case series of 30 patients (24 with PD and 6 with MSA).

Results: Vocal fold atrophy causing bowing with a midfold glottic gap was common in patients with PD.

Dopamine D1 and D2 receptor antagonism effects on rat ultrasonic vocalizations.

Voice disorders manifest in the early stages of Parkinson disease (PD), suggesting the vulnerability of the laryngeal sensorimotor system to mild alterations in dopamine signaling. Previous research has demonstrated that manipulations of central dopamine result in acoustic changes in rat ultrasonic vocalization (USV) and selective manipulation of receptor subtypes results in dose dependent changes in call rate and complexity. However, no study has specifically focused on the influence of dopamine receptor subtypes on acoustic features of USV production.

Control of phonatory onset and offset in Parkinson patients following deep brain stimulation of the subthalamic nucleus and caudal zona incerta.

Laryngeal hypokinesia is a common symptom in Parkinson's disease (PD) that affects quality of life. Deep brain stimulation (DBS) is well recognized as a complementary method for treatment of motor symptoms in PD but the outcomes on patients' control over phonatory alternation have yet not been clearly elucidated. The present study examined the effect of subthalamic nucleus STN-DBS (n = 8, aged 51-72 yrs; median = 63 yrs) and caudal Zona incerta cZi-DBS (n = 8, aged 49-71 yrs; median = 61 yrs) on control of onset and offset of phonation in connected speech.

Analysis of oropharyngeal dysphagia through fibroendoscopy evaluation of swallowing in patients with Parkinson's disease.

Background: Parkinson's disease (PD) has a high incidence in Mexico and is estimated at approximately 500,000 patients. One of the main clinical manifestations of PD is dysphagia, which is the difficult passage of food from the mouth to the stomach. The aim of this study was to assess oropharyngeal dysphagia through fibroendoscopy evaluation of swallowing in patients with PD.

Silent saliva aspiration in Parkinson's disease.

Background: Silent laryngeal penetration and silent aspiration (SLP/SA) are common manifestations in Parkinson's disease (PD) patients and are frequently associated with dysphagia. However, little is known about saliva aspiration in this population.

Objective: We investigated the frequency and characteristics of saliva SLP/SA in PD patients with daily drooling (Group A) and in individuals without PD or daily drooling (Group B).