Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
SAGE Open Medicine, 2023 Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many
Wireko Andrew Awuah +18 more
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Hereditary Spastic Paraplegia: An Update
International Journal of Molecular Sciences, 2022 Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities.
Antonio Orlacchio
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Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report [PDF]
Journal of Medical Case ReportsBackground Autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum is a complex hereditary spastic paraplegia. Spastic paraplegia type 11 (SPG11) mutation is the most frequent form of autosomal recessive hereditary spastic ...
Aidi Luo +3 more
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Brain, 2016 High-throughput next-generation sequencing can identify disease-causing mutations in extremely heterogeneous disorders. Kara et al . investigate a series of 97 index cases with complex hereditary spastic paraplegia (HSP).
Eleanna Kara +2 more
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Nature Communications, 2019 Alterations of Ca2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca2+ efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol
Matias Wagner +2 more
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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Brain, 2018 Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes ...
Silvia Fenu +2 more
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
Brain, 2017 Ludger Schöls +2 more
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Magnetic Resonance Imaging of Trunk Musculature and Intervertebral Discs in Patients with Spinal Cord Injury with Thoracolumbar Vertebral Fractures: A Prospective Study [PDF]
Asian Spine Journal, 2020 Study Design This study is a prospective clinical study. Purpose This study aims to evaluate the characteristics of trunk musculature and intervertebral discs by using magnetic resonance imaging in patients with spinal cord injuries (SCIs) with thoracic ...
Roop Singh +4 more
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Spine Surgery and Related Research, 2023 Introduction: Conventional magnetic resonance imaging findings frequently do not correlate with the symptoms of lumbar disc herniation (LDH). Diffusion-weighted imaging can reveal important details about the microstructure of tissues. This study assessed
Roop Singh +5 more
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Outcome of Pedicle Screw Fixation and Monosegmental Fusion in Patients with Fresh Thoracolumbar Fractures [PDF]
Asian Spine Journal, 2014 Study DesignProspective clinical study.PurposeThe present prospective study aims to evaluate the clinical, radiological, and functional and quality of life outcomes in patients with fresh thoracolumbar fractures managed by posterior instrumentation of ...
Roop Singh +4 more
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