Converging cellular themes for the hereditary spastic paraplegias
Sign Up to like & getrecommendations! Published in 2018 at "Current Opinion in Neurobiology"
DOI: 10.1016/j.conb.2018.04.025
Abstract: Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. They are among the most genetically-diverse neurologic disorders, with >80 distinct genetic loci… read more here.
Keywords: hereditary spastic; cellular themes; spastic paraplegias; converging cellular ... See more keywords
Genetics in hereditary spastic paraplegias: Essential but not enough
Sign Up to like & getrecommendations! Published in 2021 at "Current Opinion in Neurobiology"
DOI: 10.1016/j.conb.2021.07.005
Abstract: Hereditary spastic paraplegias consist of a group of rare neurodegenerative diseases characterized by lower limb spasticity. These inherited Mendelian disorders show high genetic variability associated with wide clinical diversity. Pathophysiological investigations have suggested that mutations… read more here.
Keywords: essential enough; hereditary spastic; genetics; genetics hereditary ... See more keywords
Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias
Sign Up to like & getrecommendations! Published in 2021 at "iScience"
DOI: 10.1016/j.isci.2021.102484
Abstract: Summary The Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and weakness in the lower body. Owing to the combination of genetic diversity and variable clinical presentation, the Hereditary Spastic Paraplegias… read more here.
Keywords: protein; stratification; machine learning; hereditary spastic ... See more keywords
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Open"
DOI: 10.1136/bmjopen-2021-054011
Abstract: Introduction Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical features, including… read more here.
Keywords: hereditary spastic; spastic paraplegias; cohort study; study ... See more keywords
Genetic work-up of hereditary spastic paraplegias is crucial for classifying these disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x20190090
Abstract: Dear Editor, We read, with interest, the article by Ortega et al. about the study of 35 Brazilian patients with hereditary spastic paraplegia (HSP), of whom 12 presented with a pure form of HSP and… read more here.
Keywords: spastic paraplegias; hereditary spastic; tested mutations; work hereditary ... See more keywords
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience
Sign Up to like & getrecommendations! Published in 2021 at "Brain Sciences"
DOI: 10.3390/brainsci11020246
Abstract: The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of Next Generation Sequencing (NGS) technologies is increasing the diagnostic rate,… read more here.
Keywords: cerebellar ataxias; hereditary spastic; hsp; center ... See more keywords