Results 31 to 40 of about 132,494 (221)

Genetic diagnosis of hereditary spastic paraplegia in a family: one case report and literature review

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
doaj   +1 more source

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, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, B. Quintans Castro, I. Posada Rodríguez, A. Vadillo Bermejo, Á. Domingo Santos, E. Blanco Vicente, I. Infante Ceberio, J. Pardo Fernández, E. Costa Arpín, C. Painous Martí, J.E. Muñoz, P. Mir Rivera, F. Montón Álvarez, L. Bataller Alberola, J. Gascón Bayarri, C. Casasnovas Pons, V. Vélez Santamaría, A. López de Munain, G. Fernández-Eulate, J. Gazulla Abío, I. Sanz Gallego, L. Rojas Bartolomé, Ó. Ayo Martín, T. Segura Martín, C. González Mingot, M. Baraldés Rovira, R. Sivera Mascaró, E. Cubo Delgado, A. Echavarría Íñiguez, F. Vázquez Sánchez, M. Bártulos Iglesias, M.T. Casadevall Codina, E.M. Martínez Fernández, C. Labandeira Guerra, B. Alemany Perna, A. Carvajal Hernández, C. Fernández Moreno, M. Palacín Larroy, N. Caballol Pons, A. Ávila Rivera, F.J. Navacerrada Barrero, R. Lobato Rodríguez, M.J. Sobrido Gómez   +48 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, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, B. Quintans Castro, I. Posada Rodríguez, A. Vadillo Bermejo, Á. Domingo Santos, E. Blanco Vicente, I. Infante Ceberio, J. Pardo Fernández, E. Costa Arpín, C. Painous Martí, J.E. Muñoz García, P. Mir Rivera, F. Montón Álvarez, L. Bataller Alberola, J. Gascón Bayarri, C. Casasnovas Pons, V. Vélez Santamaría, A. López de Munain, G. Fernández-Eulate, J. Gazulla Abío, I. Sanz Gallego, L. Rojas Bartolomé, Ó. Ayo Martín, T. Segura Martín, C. González Mingot, M. Baraldés Rovira, R. Sivera Mascaró, E. Cubo Delgado, A. Echavarría Íñiguez, F. Vázquez Sánchez, M. Bártulos Iglesias, M.T. Casadevall Codina, E.M. Martínez Fernández, C. Labandeira Guerra, B. Alemany Perna, A. Carvajal Hernández, C. Fernández Moreno, M. Palacín Larroy, N. Caballol Pons, A. Ávila Rivera, F.J. Navacerrada Barrero, R. Lobato Rodríguez, M.J. Sobrido Gómez   +48 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, Lennart Robers, Matteo Veronese, Peter Zentis, Felix Babatz, Susanne Brodesser, Anja V Gruszczyk, Astrid Schauss, Stefan Höning, Elena I Rugarli   +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, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad   +6 more
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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)

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, Silvana Santos, Lucia Inês Macedo-Souza, Carlos Bandeira de Mello Monteiro, Maria Isabel Veras, Simone Amorim, Mayana Zatz, Fernando Kok   +7 more
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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

Stem Cell Research, 2021
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1).
Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari   +7 more
doaj   +1 more source

Use of Sugammadex in Strumpell-Lorrain Disease: a Report of Two Cases

Brazilian Journal of Anesthesiology, 2013
Content: : Strumpell-Lorrain disease - or familial spastic paraplegia (FSP) - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia ...
José Antonio Franco-Hernández, Luis Muñoz Rodríguez, Pilar Jubera Ortiz de Landázuri, Alejandra García Hernández   +3 more
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Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners

, 2015
Hereditary spastic paraplegia (HSP) is one of the most heterogeneous neurodegenerative diseases with more than 50 identified genes causing a relatively stereotypical phenotypic presentation. Recent studies of HSP pathogenesis have suggested the existence
Jiali Zhao, Peter Hedera
core   +1 more source

A rare case of hereditary spastic paraplegia: Case report

Radiology Case Reports
Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia ...
Aymane Bijbij, MD, Adib Remmal, MD, Habib Bellamlih, PhD, Taoufik Africha, PhD, Soufiane Belabbes, Phd, Brahim Zainoun, PhD   +5 more
doaj   +1 more source