Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2
Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…Under three seconds: Objective speech markers of ataxia in Multiple Sclerosis
Objective: To examine the relationship between objective markers of speech motor control, disease severity and ataxia. Background: Mild dysarthria is a common symptom of Multiple…Spinocerebellar Ataxia Type 2 Presenting with Chorea: Korean Cases
Objective: To report cases of SCA2 presenting with chorea, which have not been reported in Korea Background: Spinocerebellar ataxias (SCAs) manifest ethnic and geographical differences…DBS neuromodulation reduces severe dystonic pain in children and young people
Objective: This review analyses the prevalence of painful dystonia in a cohort of children undergoing neuromodulation. The aim was to better understand the dystonic pain…Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…Duration of response with abobotulinumtoxinA in cervical dystonia: Patient distribution results from two open label extension studies
Objective: To report patient distribution data for duration of response with abobotulinumtoxinA (aboBoNT-A; Dysport®) from two open-label (OL) studies in patients with cervical dystonia (CD).…Physiological effects of Botulinum Toxin therapy in Primary Cervical Dystonia
Objective: To examine the physiological effects of botulinum toxin (BoNT) therapy, as measured by paired-pulse transcranial magnetic stimulation (TMS), in patients with primary cervical dystonia…Abnormal cerebellar learning in cervical dystonia
Objective: This study was conceptualized to asses if patients with cervical dystonia (CD) exhibit deficits in cerebellar function tested by motor adaptation and motor sequence…Neuropathology of dopa-responsive dystonia due to Tyrosine hydroxylase deficiency
Objective: To describe detailed neuropathology findings from an autopsy case of dopa-responsive dystonia (DRD) with genetically confirmed tyrosine hydroxylase deficiency (THD). Background: DRD comprises a…Underserved Patient Access to Movement Disorders Care: Experience from a Tertiary Academic Referral Center
Objective: To explore geographical and clinic-demographical profile of underserved patients in Florida diagnosed with movement disorders. Background: Movement disorders are complex conditions that often require…
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