Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?
Objective: We aim to characterize clinical and demographic features pertaining to the time of onset of mood disorder in CD patients. Background: Mood disorder frequently…Neuropsychiatric non-motor manifestations in patients with focal dystonia
Objective: We aimed to evaluate the neuro-psychiatric manifestations in focal dystonia patients. Background: Idiopathic focal dystonia is one of the most common forms of dystonia…Prevalence of Arm Tremor Associated With Dystonia (Arm-TAWD) in patients with Adult-onset Isolated Cervical Dystonia in an Irish population.
Objective: The aim of the study was to determine whether Arm-TWAD affects HrQoL in patients with adult-onset isolated cervical dystonia (AOIFD-CD). Background: TAWD is tremor…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…Prevalence of Spread of Dystonia and its effect on health-related quality of life in an Irish population with adult-onset isolated cervical dystonia.
Objective: We aim to characterize clinical and demographic features and assess prevalence of spread of dystonia in relation to health-related quality of life in CD…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…The Dystonia Coalition Natural History Project: An Available Research Resource
Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…
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