Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Difference in sleep disorders among Parkinson’s disease, cervical dystonia and patients with depression
Objective: Aim of this study was to evaluate frequency and characteristics of sleep disorders among patients with Parkinson disease (PD), cervical dystonia (CD) and depression.…Cortical thinning as a neuroimaging marker of cognitive decline in X-linked dystonia-parkinsonism
Objective: To investigate whether alterations of cortical thickness correspond to cognitive dysfunction in XDP patients. Background: X-linked dystonia-parkinsonism (XDP) is a severe, hereditary movement disorder…Assessment of cognitive functions, depression-anxiety scales and quality of life in patients and their relatives with Cervical Dystonia and Botulinum Toxin Treatment
Objective: In this study, we investigated the psychiatric comorbid disorders and quality of life issues such as cognitive dysfunction accompanied by cervical dystonia and accompanying…Writing tremor: Should we look for a TOR1A mutation?
Objective: Writing tremor is not always a primary writing tremor but can undermask a dystonia gene-associated tremor. Background: Dystonia gene-associated tremor corresponds to isolated tremor…The international MDSGene initiative: Systematically exploring genotype-phenotype correlations of hereditary movement disorders
Objective: To explore phenotype-genotype relationships of familial movement disorders, the Movement Disorder Society Genetic Mutation Database (MDSGene) extracts, summarizes, and curates published data on the…Movement Disorders Phenomenology in Focal Motor Seizures
Objective: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for one or more movement disorder. Background:…Neuropsychiatric and prognostic differences between functional and primary dystonia subtypes in a US specialized dystonia clinic: a case control study
Objective: Case-control study investigating clinical characteristics associated with functional dystonia (FDys) and comparison to matched patients with primary other dystonia (ODys) within a US specialized…Movement and postural control in focal dystonia subjects measured using surface electromyography
Objective: To explore the difference in muscle activation during a postural versus movement control task in patients with focal dystonia. Background: Co-contraction of agonist and…Task-specific embouchure dystonia in a flutist
Objective: To describe a case of tremor of the lips and perioral muscles in a flutist only when forming her embouchure or playing flute. Background:…
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