Zobrazeno 1 - 10
of 4 995
pro vyhledávání: '"hereditary spastic paraplegia"'
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-12 (2024)
Abstract Background Hereditary spastic paraplegia (HSP) is a rare genetically heterogeneous neurodegenerative disorder. The most common type of HSP is caused by pathogenic variants in the SPAST gene. Various hypotheses regarding the pathogenic mechan
Externí odkaz:
https://doaj.org/article/c41d8fbefd9e4596bb32d817d179eef3
Autor:
Aymane Bijbij, MD, Adib Remmal, MD, Habib Bellamlih, PhD, Taoufik Africha, PhD, Soufiane Belabbes, Phd, Brahim Zainoun, PhD
Publikováno v:
Radiology Case Reports, Vol 20, Iss 1, Pp 837-840 (2025)
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 parapleg
Externí odkaz:
https://doaj.org/article/70da82fcbedf472ea1bbb73263f4b7eb
Autor:
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera
Publikováno v:
Neurología, Vol 39, Iss 6, Pp 515-522 (2024)
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general. Proponemos una guía práctica y breve de diagnóstico y manejo de estos pacientes, así c
Externí odkaz:
https://doaj.org/article/1adb3919b16f49b4bd27f1819567167b
Autor:
Vranda Garg, Selina André, Luisa Heyer, Gudrun Kracht, Torben Ruhwedel, Patricia Scholz, Till Ischebeck, Hauke B. Werner, Christian Dullin, Jacob Engelmann, Wiebke Möbius, Martin C. Göpfert, Roland Dosch, Bart R. H. Geurten
Publikováno v:
Open Biology, Vol 14, Iss 11 (2024)
Hereditary spastic paraplegias (HSPs) are a diverse set of neurological disorders characterized by progressive spasticity and weakness in the lower limbs caused by damage to the axons of the corticospinal tract. More than 88 genetic mutations have be
Externí odkaz:
https://doaj.org/article/1be2b10faa3e4e28b3e100c2221f867e
Autor:
Eliska Zlamalova, Catherine Rodger, Francesca Greco, Samuel R. Cheers, Julia Kleniuk, Aishwarya G. Nadadhur, Zuzana Kadlecova, Evan Reid
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106556- (2024)
Mutation of the ATL1 gene is one of the most common causes of hereditary spastic paraplegia (HSP), a group of genetic neurodegenerative conditions characterised by distal axonal degeneration of the corticospinal tract axons. Atlastin-1, the protein e
Externí odkaz:
https://doaj.org/article/f7c19cd2e45d43a18c6c19940487e4d8
Autor:
Manon Fortier, Margaux Cauhapé, Suzie Buono, Julien Becker, Alexia Menuet, Julien Branchu, Ivana Ricca, Serena Mero, Karim Dorgham, Khalid-Hamid El Hachimi, Kostantin Dobrenis, Benoit Colsch, Dominic Samaroo, Morgan Devaux, Alexandra Durr, Giovanni Stevanin, Filippo M. Santorelli, Sophie Colombo, Belinda Cowling, Frédéric Darios
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106564- (2024)
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knocko
Externí odkaz:
https://doaj.org/article/dbf32e1bf6a942ce85d9572665e8edf3
Autor:
Ferenc B. Sallo, MD, PhD, Chantal Dysli, MD, PhD, Franz Josef Holzer, MD, Emmanuelle Ranza, MD, Michel Guipponi, MD, Stylianos E. Antonarakis, MD, Francis L. Munier, MD, Alan C. Bird, MD, Daniel F. Schorderet, MD, Beatrice Rossillion, MD, Veronika Vaclavik, MD
Publikováno v:
Ophthalmology Science, Vol 5, Iss 1, Pp 100618- (2025)
Purpose: To report the retinal phenotype in 2 patients simulating type 2 macular telangiectasis with new variants in CYP2U1 implicated in hereditary spastic paraplegia type 56 (HSP 56). Design: Cross sectional case series study. Participants: Five me
Externí odkaz:
https://doaj.org/article/1a81ba0590ed4692b44b57198c57880a
Akademický článek
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Autor:
Salimata Diarra, Saikat Ghosh, Lassana Cissé, Thomas Coulibaly, Abdoulaye Yalcouyé, George Harmison, Salimata Diallo, Seybou H. Diallo, Oumar Coulibaly, Alice Schindler, Cheick A.K. Cissé, Alassane B. Maiga, Salia Bamba, Oumar Samassekou, Mustafa K. Khokha, Emily K. Mis, Saquib A. Lakhani, Frank X. Donovan, Steve Jacobson, Craig Blackstone, Cheick O. Guinto, Guida Landouré, Juan S. Bonifacino, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Neurobiology of Disease, Vol 198, Iss , Pp 106537- (2024)
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three c
Externí odkaz:
https://doaj.org/article/ae7527cfc144494db6ca02e0b1ec3625
Autor:
Kei-ichiro Inamori, Katsuya Nakamura, Fumi Shishido, Jia-Chen Hsu, Masakazu Nagafuku, Takahiro Nitta, Junji Ikeda, Hidekane Yoshimura, Minori Kodaira, Naomi Tsuchida, Naomichi Matsumoto, Satoshi Uemura, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Akira Togayachi, Kiyoko F. Aoki-Kinoshita, Shoko Nishihara, Jun-ichi Furukawa, Tadashi Kaname, Masahiko Nakamura, Takayoshi Shimohata, Shu Tadaka, Matsuyuki Shirota, Kengo Kinoshita, Yutaka Nakamura, Isao Ohno, Yoshiki Sekijima, Jin-ichi Inokuchi
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurological disorders that are characterized by progressive spasticity and weakness in the lower limbs. SPG26 is a complicated form of HSP, which includes not only weakness in the lower
Externí odkaz:
https://doaj.org/article/71c917f9d2d54bdf92d9ba2611dfc30c