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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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Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (SPOAN) [PDF]
Arquivos de Neuro-Psiquiatria, 2010 Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral ...
Zodja Graciani +7 more
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Amyloidosis in paraplegia [PDF]
Spinal Cord, 1963 A short survey is given on the classifications of primary and secondary amyloidosis. Two cases of amyloidosis in traumatic paraplegic patients are presented and clinical symptoms as well as the post-mortem histological and histochemical findings in various organs are described.
Alessia Maglio, P Potenza
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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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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum [PDF]
Nature Genetics, 2007 Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
Giovanni Stevanin +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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