Expression analysis of candidate genes in a cell model of affected and unaffected THAP1 mutation carriers and controls
Objective: To evaluate the role of expressional changes in carriers of a THAP1 mutation in relation to penetrance of dystonia. Background: THAP1 encodes a transcription…Social Cognition and Habituation in Cervical Dystonia
Objective: To assess social cognition in people with cervical dystonia (CD). Background: Anxiety and depression are common and disabling comorbidities in CD. Difficulties in processing…Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…Bilateral Globus pallidus interna Deep Brain Stimulation in Cranio-Cervical Dystonia (Meige syndrome) patient in Hong Kong
Objective: To report the first cranio- cervical dystonia (Meige syndrome) patient who received Deep Brain Stimulation (DBS) implant in Hong Kong. Background: Meige syndrome is…Stiff Limb Syndrome Masquerading As a Focal Limb Dystonia
Objective: To report a case of immune-mediated stiff limb syndrome referred for extremity focal dystonia. Background: Autoantibodies to glutamic acid decarboxylase (GAD) are associated with…Rapidly progressive cognitive decline and hemi-dystonia due to anti-neuronal surface antibodies
Objective: To describe a case of marked asymmetric coarse tremor and dystonia in patient diagnosed with anti-NMDAR encephalitis. Background: Anti-NMDAR encephalitis has complex and heterogeneous…Management of poor response to Botulinum toxin in cervical dystonia: a multicentre audit
Objective: To audit the management of cervical dystonia patients with secondary poor responsiveness to BoNT in two regional U.K. neuroscience centres against the British Neurotoxin…An examination of real-world onabotulinumtoxinA utilisation for the treatment of lower limb spasticity: The Adult Spasticity International Registry (ASPIRE) study
Objective: To explore real-world patterns of onabotulinumtoxinA utilisation in patients with lower limb spasticity over 2 years. Background: OnabotulinumtoxinA treatment for spasticity is variable as…Structural Connectivity Predicts Clinical Outcomes of Deep Brain Stimulation for Tourette Syndrome
Objective: The objective of this study was to identify the structural connectivity correlates of improvement in tics and obsessive-compulsive behavior (OCB) following deep brain stimulation…Orthostatic tremor – a case series
Objective: To study the clinical characteristics of a large single-centre cohort of patients with Orthostatic Tremor (OT) Background: OT is a rare but disabling condition…
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