Results 51 to 60 of about 21,283 (267)

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
doaj   +1 more source

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, Conte, C, Coppola, G, Draicchio, F, Lacquaniti, F, Leonardi, L, Martino, G, Pierelli, F, Ranavolo, A, Rinaldi, M, Serrao, M, Varrecchia, T   +11 more
core   +4 more sources

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Lancet Neurology, 2019
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs.
S. Shribman, E. Reid, A. Crosby, H. Houlden, T. Warner   +4 more
semanticscholar   +1 more source

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
doaj   +1 more source

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, Blackstone, Craig, Hurley, James H, Parker, Rell L, Renvoisé, Benoît, Yang, Dong   +5 more
core   +3 more sources

Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation

Life Science Alliance, 2020
The balance between HIPK2-mediated phosphorylation and neddylation-dependent degradation controls spastin protein levels, revealing novel therapeutic targets for hereditary spastic paraplegia.
F. Sardina, Alessandra Pisciottani, Manuela Ferrara, Davide Valente, Marialuisa Casella, M. Crescenzi, A. Peschiaroli, C. Casali, S. Soddu, A. Grierson, C. Rinaldo   +10 more
semanticscholar   +1 more source

Hereditary Spastic Paraplegia and Future Therapeutic Directions: Beneficial Effects of Small Compounds Acting on Cellular Stress

Frontiers in Neuroscience, 2021
Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative conditions that share a characteristic feature of degeneration of the longest axons within the corticospinal tract, which leads to progressive spasticity and weakness of the ...
S. Gumeni, C. Vantaggiato, M. Montopoli, G. Orso   +3 more
semanticscholar   +1 more source

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

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, Baselice, F, Criscuolo, C, De Michele, G, Jacini, F, Liparoti, M, Mandolesi, L, Rucco, R, Sorrentino, G, Sorrentino, P, Vettoliere, A   +10 more
core   +3 more sources

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia

Scientific Reports, 2021
A central need for neurodegenerative diseases is to find curative drugs for the many clinical subtypes, the causative gene for most cases being unknown. This requires the classification of disease cases at the genetic and cellular level, an understanding
G. Wali, S. Berkovsky, Daniel R. Whiten, A. Mackay-Sim, C. Sue   +4 more
semanticscholar   +1 more source