Childhood-Onset Spastic Paraparesis Followed by Early-Onset Parkinsonism: A Genetically Unresolved Case of Complicated Hereditary Spastic Paraplegia
Objective: to present a rare case of patient with childhood-onset spastic paraparesis who developed early-onset Parkinson's disease. Background: Approximately 21% of HSP patients develop parkinsonism,…Clinical Outcome Assessments for Spasticity and Functional Performance in Spastic Paresis: Which Scales Should Be Used?
Objective: To review clinical outcome assessments (COAs) used to evaluate spasticity and functional impairment in spastic paresis and provide recommendations for their use in clinical…Identification of Novel FA2H Mutations in Patients with Hereditary Spastic Paraplegia Type 35 (SPG35)
Objective: We reported three cases of SPG35 caused by compound heterozygous mutations in the FA2H gene, with ataxia as the initial clinical manifestation. Among the…Childhood-Onset Parkinsonism with Prominent Pyramidal Signs: A Complex Neurogenetic Phenotype
Objective: To describe the clinical and genetic characteristics of patients with childhood-onset parkinsonism associated with pyramidal signs. Background: The coexistence of parkinsonism and pyramidal signs…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…
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