Ultrasound Assessment of Collagen Content in Contracted and Non-contracted Muscle Areas: A Comparative Study
Objective: The objective of this study was to evaluate the feasibility and reliability of ultrasound imaging as a method to estimate collagen content in contracted…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…Adult Onset Spastic Paraplegia in TUBB4A Leukodystrophy
Objective: Introduction: Leukodystrophies are primarily known as childhood diseases, but recent advances in genetic testing and brain imaging have led to an increase in reports…Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia
Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…Using wearable wireless technology to understand the natural history of adrenomyeloneuropathy in both clinic and home settings: 1-year follow-up in the CYGNET study
Objective: To assess the feasibility of using wearable wireless motion sensors to quantify disease progression in men with adrenomyeloneuropathy (AMN) enrolled in the CYGNET natural…Quantitative analysis of speech diadochokinetic rate in hereditary spastic paraplegia SPG3A
Objective: To analyze the dysarthria and speech diadochokinetic rate in a patient with hereditary spastic paraplegia (SPG3A). Background: Hereditary spastic paraplegias (HSP) are about 80…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Early-onset spastic ataxia in a patient with prion (PRNP) p.Val180Ile mutation
Objective: To broaden the clinical manifestation of PRNP gene mutation-related ataxia. Background: Genetic forms of prion diseases caused by PRNP mutation account for about 10-15%,…Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England
Objective: To identify the prevalence and phenotype of patients with biallelic pathogenic SPG7 mutations Background: Spastic Paraplegia Type 7 (SPG7) is an autosomal recessive disorder…Expanding the spectrum of Hereditary Spastic Paraplegia: An interesting Case .
Objective: We describe an interesting case of a young adult with a 5 year progressive history of spastic quadripareisis , cognitive decline, seizures and pseudobulbar…
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