Preliminary Results From an Italian Multicentric Study on Inherited Synaptopathies Characterized by Movement Disorders and Epilepsy
Objective: To present the preliminary results of an Italian multicentric study on inherited synaptopathies Background: Inherited synaptopathies are rare genetic disorders characterized by complex and…A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report
Objective: To make the first case report of SPSMA associated with TRPV4 gene mutation in the Peruvian population presented in a young Peruvian woman. Background:…Episodic Rocking Movements in a Young Boy.
Objective: To present a unique case of a 7-year-old boy with episodic rocking and break-dancing movements from the last 3 years Background: Abnormal episodic movements…Medication Administration Burden in Lewy Body Dementia Caregivers
Objective: To evaluate medication administration burden among Lewy Body Dementia (LBD) family caregivers and associations with caregiver and care recipient characteristics. Background: Family caregivers of…Physiotherapy for Dystonia in the UK: Current Practice, Patient Perspectives, and Future Directions
Objective: To determine the proportion of patients with dystonia accessing physiotherapy services in the United Kingdom, identify potential barriers to access, and gather patient perspectives…Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member
Objective: The objective is to investigate the genetic basis of cerebellar ataxia and identify a novel variant associated with this condition in an active-duty military…Novel findings in a Swedish RFC1-related disorder cohort
Objective: This study aims to clinically characterize a Swedish cohort of patients featuring RFC1 CANVAS/spectrum disorders. Background: Biallelic pentanucleotide expansions in the RFC1 gene are…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…Long-Term Safety and Efficacy of Valbenazine for Treating Huntington’s Disease Chorea
Objective: To present safety and efficacy results from a long-term study of once-daily valbenazine for chorea associated with Huntington’s disease (HD). Background: In a 12-week…Prevalence of Essential Tremor in elderly people in Southern Brazil
Objective: To assess the prevalence of Essential Tremor (ET) in elderly individuals from Veranópolis, Rio Grande do Sul, Brazil. Background: ET is one of the…
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