Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…Complex Pediatric Tone and Movement Disorder Clinic: A Model for Multi-disciplinary Care in Qatar.
Objective: To describe a multidisciplinary service model designed for children with complex tone and movement disorders Background: Pediatric tone and movement disorders are diverse and…A young man with rapidly progressive spastic hemiplegia.
Objective: A 17 years-old male develops rapidly progressive impairment of balance and gait, left sided weakness, falls, headache, vomiting, photophobia and phonophobia. No history of…Fractal analysis of muscle ultrasound imaging to evaluate muscle health and spasticity
Objective: The aim was to assess the capabilities of using fractal analysis of neuromuscular ultrasound images to evaluate muscle health and spasticity. Background: Ultrasound (US)…Phenotyping spasticity-associated tonic spasms: implications for therapy
Objective: To evaluate common phenotypes of tonic spasms (TS) in patients with spasticity and inform therapeutic interventions. Background: Spasticity can be associated with several hyperkinetic…Shear wave sonoelastography is effective in detecting myofascial trigger points and spasticity
Objective: The aim was to evaluate effectiveness of shear wave sonoelastography is effective in detecting myofascial trigger points (MTrP) and spasticity. Background: Ultrasound (US) revolutionized…Perceptions of burden of spasticity and treatment satisfaction among post-stroke patients over the course of a botulinum neurotoxin A (BoNT-A) treatment cycle: An ethnographic study
Objective: To design an ethnographic study following patients over a botulinum toxin type-A (BoNT-A) treatment cycle to inform individualized treatment. Background: The concept of individualized…MDSGene Systematic Review: Genotype-Phenotype Relations for Hereditary Spastic Paraplegia Genes SPAST, ATL1 & REEP1
Objective: To provide a comprehensive systematic review of the genotype-phenotype association in the most common three autosomal dominant genes of hereditary spastic paraplegia (HSP): SPAST,…Heterozygous mutation in CCDC88C gene as a cause of early onset pure hereditary spastic paraplegia
Objective: The objective of this study was to identify the molecular diagnosis of a Sudanese lady presenting with pyramidal signs and symptoms using whole exome…Spastic Paraplegia Type 64: a Case Series
Objective: to present four cases (two families) with a likely diagnosis of spastic paraplegia type 64 (SPG 64), broadening this disease phenotype. Background: SPG64 is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.