The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in...

BACKGROUND Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable ...

OBJECTIVES/HYPOTHESIS The aim of this study was to define the coprevalence of tremor with spasmodic dysphonia (SD). STUDY DESIGN A single-institution, prospective, case-control study was performed from May 2010 to July 2010. METHODS Consecutive patients with SD (cases) and other voice disorders (controls) were enrolled prospectively. Each participant underwent a voice evaluation and an eval...

Background: there seems to be a consensus in the literature on the symptomatic description of laryngeal focal dystonia (LFD). Its etiology, however, presents controversies since the literature points to psychological and neurological aspects. As a result of this controversy, presented not only in the literature but also in the clinical practice, the present research privileged this pathology am...

BACKGROUND Spasmodic dysphonia (SD) is a focal dystonia of the larynx. Although individuals with SD have variable degrees of difficulty in everyday communication and speaking, many report significant impairments. The impact of SD on the quality of life of people with the disorder has not been well measured. OBJECTIVES To assess the impact of SD using a voice-specific, validated outcomes instr...

BACKGROUND Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS Patients with adult onset idiopathic...

Spasmodic dysphonia (SD) is a primary focal dystonia characterized by involuntary spasms in the laryngeal muscles during speech production. Although recent studies have found abnormal brain function and white matter organization in SD, the extent of gray matter alterations, their structure-function relationships, and correlations with symptoms remain unknown. We compared gray matter volume (GMV...

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Ons...

OBJECTIVES This study characterized the relationship between relative fundamental frequency (RFF) and listeners' perceptions of vocal effort and overall spasmodic dysphonia severity in the voices of 19 individuals with adductor spasmodic dysphonia. METHODS Twenty inexperienced listeners evaluated the vocal effort and overall severity of voices using visual analog scales. The squared correlati...

BACKGROUND Symptoms of spasmodic dysphonia (SD) are usually managed successfully with botulinum toxin injections. Vocal tremor (VT), which accompanies SD, has a poor response to this treatment. CASE REPORT We report a case of a female with SD and VT who became symptom-free for 10 months after the intake of a single dose of sodium oxybate (Xyrem®). The long-term treatment effect correlated wit...