Results 41 to 50 of about 21,283 (267)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases. [PDF]

Ann Clin Transl Neurol
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Mitsutake A, Osaki M, Matsukawa T, Osako M, Takeuchi C, Ishiura H, Mitsui J, Kurokawa R, Mori H, Takahashi Y, Goto J, Tsuji S, Toda T.   +12 more
europepmc   +2 more sources

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) [PDF]

, 2017
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons.
Andreeva, Albena, Asselbergh, Bob, Chamova, Teodora, Chang, Dae-In, De Rycke, Riet, Estrada-Cuzcano, Alejandro, Holemans, Tine, Jordanova, Albena, Klein, Christine, Martin, Shaun, Pöppel, Thorsten, Reichbauer, Jennifer, Samuel, Jean, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis, Sørensen, Danny Mollerup, Timmann, Dagmar, Tournev, Ivailo, van Veen, Sarah, Vangheluwe, Peter, Zuchner, Stephan   +21 more
core   +2 more sources

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, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu   +6 more
doaj   +1 more source

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

Autophagy, 2021
Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders characterized by leg spasticity due to degeneration of corticospinal axons.
M. Khundadze, Federico Ribaudo, Adeela Hussain, Henry Stahlberg, Nahal Brocke-Ahmadinejad, Patricia Franzka, Rita-Eva Varga, M. Žarković, Thanakorn Pungsrinont, Miriam Kokal, I. Ganley, C. Beetz, M. Sylvester, C. Hübner   +13 more
semanticscholar   +1 more source

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

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Cells, 2021
Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. Due to their clinical and genetic heterogeneity, finding common effective therapeutics is difficult.
Liriopé Toupenet Marchesi, M. Leblanc, G. Stevanin   +2 more
semanticscholar   +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
doaj   +1 more source

HEREDITARY SPASTIC PARAPLEGIA

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
openaire   +2 more sources

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes

American Journal of Neuroradiology, 2021
BACKGROUND AND PURPOSE: Spinal cord damage is a hallmark of hereditary spastic paraplegias, but it is still not clear whether specific subtypes of the disease have distinctive patterns of spinal cord gray (GM) and white (WM) matter involvement.
K.R. Servelhere, R. Casseb, F. D. de Lima, T. Rezende, L. Ramalho, M. França   +5 more
semanticscholar   +1 more source