Cerebrotendinous Xanthomatosis: A Rare Lipid Storage Disease
Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to…Evaluation of Balance in Hereditary Ataxias
Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…Slowly progressive anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia over 27 years without immunosuppressive treatment
Objective: To discuss a slowly progressive case of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia. Background: Anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia was first identified in 2010 (1). Since then,…Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia
Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…Generalized dystonia and chorea with family history: Clinical case
Objective: This clinical case intends to highlight the in expansion genotypic base of the genetically undefined benign hereditary chorea, where de adenylate cyclase 5 gene…Postural Stability in Blepharospasm and the Effects of Botulinum Toxin Therapy
Objective: To determine (1) how blepharospasm effects postural stability and (2) to evaluate the efficacy of botulinum toxin therapy (BoNT-A) on static balance in patients…Assessment of cognitive functions, depression-anxiety scales and quality of life in patients and their relatives with Cervical Dystonia and Botulinum Toxin Treatment
Objective: In this study, we investigated the psychiatric comorbid disorders and quality of life issues such as cognitive dysfunction accompanied by cervical dystonia and accompanying…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Mingo Supplement Trial: An Open-Labeled Randomized-Controlled Trial in X-linked Dystonia-Parkinsonism patients in the Province of Capiz, Philippines
Objective: To see whether increasing the caloric intake of patients by 480 calories per day using a locally sourced food supplement, Mingo, would raise the…Impaired reaching movements in idiopathic cervical dystonia patients
Objective: Aim of the current study is to describe how patients with idiopathic cervical dystonia (CD) perform reaching movements with their upper limb (i.e. a…
- « Previous Page
- 1
- …
- 157
- 158
- 159
- 160
- 161
- …
- 177
- Next Page »