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…Natural History of Movement Abnormalities on Hereditary Spastic Paraplegia: validation of timed functional instruments
Objective: To evaluate the natural history of Hereditary Spastic Paraplegia (HSPs) and to define sensitivity to change, minimal clinically important difference (MCID) and validity of…The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Whole-Body Neuromuscular Ultrasound for Evaluating Posture and Targeted Management of Muscle Spasticity and Pain
Objective: The aim was to assess efficacy of whole body neuromuscular ultrasound to evaluate posture and targeted management of muscle spasticity and pain. Background: Muscle…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…Neuropathological findings in a SPG4 gene mutation carrier
Objective: To describe the clinical and neuropathological findings of a patient carrier of a mutation in the SPG4 gene. Background: Hereditary spastic paraplegia (HSP) linked…