Novel heterozygous variant in VPS13A: First case report of choreoacanthocytosis in northern México
Objective: This is the first reported case of choreoacanthocytosis with molecular confirmation in northern Mexico, which also presented a previously unreported variant in genetic databases.…Chorea,dystonia, and tics:lessons learned from the clinical pattern associated with VPS13A disease
Objective: To highlight clinical manifestations of VPS13A disease Background: VPS13A disease causes motor and neuropsychiatric symptoms including dystonia, chorea, tics, and cognitive decline, but can…Interferon Therapy in Subacute Sclerosing Panencephalitis: An Underestimated Option?
Objective: To report the efficacy and safety of long-term intrathecal interferon therapy in a patient with SSPE. Background: Subacute Sclerosing Panencephalitis (SSPE), a fatal progressive…Dual Target Bi Pallidal Deep Brain Stimulation in Tourette Syndrome Deciphering Neurophysiology with Chronic Local Field Potential Recordings
Objective: To investigate the neurophysiological activity of dual-target bi-pallidal DBS in Tourette Syndrome (TS) patients using chronic local field potential (LFP) recordings in an outpatient…Phenotypic Overlap of CACNA1A-Related Disorders
Objective: To highlight the complex genotype-phenotype associations of CACNA1A-related disorders and demonstrate that clinical presentation may not always align with current genetic classifications. Background: Pathogenic…Back Muscle Activity is Associated with Pain with Cervical Dystonia Patients
Objective: To evaluate if dystonia patients without axial phenotype have spontaneous electric activity in back muscles. Background: Patients with cervical dystonia (CD) often complain of…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…Randomness and bursting of pallidal spiking activity correlates with DBS outcome in Parkinson’s disease and dystonia
Objective: The aim of the current study is to characterize spontaneous pallidal neuronal activity in patients with Pakninson’s disease (PD) and dystonia with different clinical…White matter alterations in Yeo’s motor network correlate with kinematic writing behavior in writer’s cramp dystonia
Objective: To investigate the relationship between white matter changes in the motor network and kinematic writing measures in WC and healthy volunteers (HV). Background: Writer’s…Quality of life measurement in patients with generalized dystonia who underwent deep brain stimulation treatment.
Objective: To measure the improvement in perceived Quality of Life (QoL) in patients who underwent to DBS placement. Background: Generalized dystonias are characterized by sustained…
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