Juvenile parkinsonism masquerading as hereditary spastic paraplegia
Objective: To present a patient with juvenile parkinsonism initially presented with billateral foot dystonia and inreased deep tendon reflexes. Background: Patients with juvenile parkinsonism may…The Burden of Spasticity in Adults with Cerebral Palsy in South Africa
Objective: Describe the demographic profile of adults with Cerebral Palsy (CP) in South Africa (SA).Quantify the burden of spasticity in adults with CP.Investigate current spasticity…Patient-reported Symptoms and their Impact in Hereditary Spastic Paraplegia and Spastic Ataxias
Objective: To understand health impacts relevant to patients with hereditary spastic paraplegia (HSP) and spastic ataxia (SPAX) by determining the prevalence and relative importance of…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.…Comparison in Therapeutic Outcome of Ultrasound-Guided Botulinum Injections for Limb Spasticity Versus Dystonia
Objective: To compare the therapeutic efficacy of BT injections for spasticity and dystonia in the limbs. Background: Botulinum toxin (BT) shows promise in alleviating limb…The Clinical and Genetic Characteristics of HSP Patients by WES Sequencing Combined with MLPA
Objective: We aim to clarify the phenotype and gene spectrum of hereditary spastic paraplegia (HSP) and improve the molecular diagnosis. Background: Next-generation sequencing-based molecular assessment…Clinical and Genetic Characteristics in a Chinese Cohort of Complex Spastic Paraplegia Type 4
Objective: To delineate the genotypic and phenotypic spectrum of patients with complex SPG4 phenotype and further explore genotype-phenotype correlations. Background: Spastic paraplegia type 4 (SPG4),…
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