National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…Central Neuromodulatory Effects of Sodium Oxybate in Laryngeal Dystonia: A Pharmacological fMRI Study
Objective: To examine the central effects of sodium oxybate in patients with alcohol-responsive (EtOH+) laryngeal dystonia (LD). Background: LD is a task-specific form of isolated…Dopamine Responsive ATP1A3 Dystonia Parkinsonism A Case Report
Objective: We present a rare familial case of a patient with ATP1A3 dystonia parkinsonism, which improved with levodopa. Background: Rapid onset dystonia parkinsonism can be…Kinematic Assessment of Balance in Cervical Dystonia
Objective: To investigate the kinematic basis of balance impairment in Cervical Dystonia (CD) and the response to different treatment modalities. Background: Several studies have demonstrated…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…Preservation of Putamen Volume with Aging in Cervical Dystonia, not other focal dystonia subtypes: A Cross-Sectional Neuroimaging Study
Objective: To investigate whether focal dystonia is associated with altered structural age-related changes in the putamen compared to healthy controls and across dystonia subtypes. Background:…Diverse clinical phenotypes of ATP1A3 mutations-A case series of four patients
Objective: To study the clinical phenotype of all patients with ATP 1A3 mutation in the genetic study Background: ATP1A3 is associated with a broad spectrum…Blepharospasm as cause of facial pain and “sinus” headache: A case series
Objective: Describe the clinical spectrum of blepharospasm Background: Blepharospasm is characterized by stereotyped, bilateral and synchronous spasms of the orbicularis oculi muscles Method: Case report…The Dutch Yips Study- part V: The VIdeo Panel (VIP)-Study
Objective: At least 10 international in Movement Disorders specialised neurologists participate in a research study that aims to better understand the origins and the phenomenology of…Waveform based analysis of cervical dystonia with tremor and essential tremor using a marker-less tracking algorithm with 2D-video: evaluation of sinusoidality and rhythmicity
Objective: This study aims to introduce a novel video-based waveform analysis to objectively measure two fundamental tremor characteristics—rhythmicity and sinusoidality. Background: Tremor is defined as…
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