Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
BMC Neurology, 2022 Background Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity.
Jiannan Chen +6 more
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陆军军医大学学报, 2023 Objective To genetically analyze a family with hereditary spastic paraplegia in order to provide theoretical basis for the pathogenesis and treatment of the disease.
ZHU Xintong, GUO Hong, GUO Hong
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National Journal of Neurology, 2013 Historical note and nomenclature. Hereditary spastic paraplegia is the name given to a group of diseases that are heterogenous and inherited, in which the main clinical feature is progressive spasticity of the lower limbs. The original description of hereditary spastic paraplegia was made by Strümpell in 1880.
Akgun Olmez, Haluk Topaloglu
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Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
Neurología, 2023 Resume: Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019. Pacientes y métodos: Estudio transversal, multicéntrico,
G. Ortega Suero +48 more
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SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. [PDF]
, 2010 Hereditary spastic paraplegias (HSPs, SPG1-46) are inherited neurological disorders characterized by lower extremity spastic weakness. Loss-of-function SPG20 gene mutations cause an autosomal recessive HSP known as Troyer syndrome.
Bakowska, Joanna C +5 more
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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study
Neurología (English Edition), 2023 Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019.
G. Ortega Suero +48 more
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Gait Patterns in Patients with Hereditary Spastic Paraparesis [PDF]
, 2016 Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been ...
Casali, C +11 more
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Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis
Life Science Alliance, 2020 The hereditary spastic paraplegia protein spastin limits the biogenesis of lipid droplets at the endoplasmic reticulum in a microtubule-independent manner, whereas it promotes lipid droplet movement by binding to the microtubules.
Nimesha Tadepalle +9 more
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A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.
Kathrine O. Eriksen +6 more
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Mutations in the SPAST gene causing hereditary spastic paraplegia arerelated to global topological alterations in brain functional networks [PDF]
, 2019 Aim: Our aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene. Methods: Ten SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological ...
Antenora, A +10 more
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