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…Spectrum of Hereditary Spastic Paraparesis (HSP): A study from India
Objective: To explore the genetic spectrum of hereditary spastic paraparesis in Indian patients. Background: HSP belongs to a heterogenous group of monogenic neurological disorders with…Neuroimaging and correlation with functional status in children with cerebral palsy
Objective: To analyse the neuroimaging findings and to establish a correlation between clinical features and magnetic resonance imaging (MRI) patterns in children with cerebral palsy…Hereditary spastic paraplegia caused by mutations in SPAST, REEP1, or ATL1: A systematic review
Objective: The objective of our systematic review was to provide a review of hereditary spastic paraplegias (HSPs) regarding their genotype and clinical presentations. Background: Hereditary…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Choice of shoulder muscles for the multi-pattern treatment of upper limb spasticity with botulinum neurotoxin injections
Objective: To present an experts’ consensus on the use of botulinum neurotoxin (BoNT) injections in the multi-pattern treatment of shoulder spasticity to increase awareness of…Role of the Stereotactic Dentatotomy for the management of Movement Disorders
Objective: Evaluate the antecedents about the clinical outcomes of stereotactic dentatotomy in the management of diverse motor disorders. Background: The dentatotomy is a surgical technique…
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