Zobrazeno 1 - 10
of 659
pro vyhledávání: '"Spastic ataxia"'
Autor:
Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic
Externí odkaz:
https://doaj.org/article/d4bf35dcfb944293a3a071c1c5bad1e8
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e33046- (2024)
We present a case study of an 8-year-old girl with autosomal recessive spastic ataxia of Charlevoix-Saguenay, who experienced gait imbalance since the age of two. Magnetic resonance imaging of the brain and whole spine, as well as electroencephalogra
Externí odkaz:
https://doaj.org/article/e87d318fd04e4d01ae438a7752601626
Autor:
Daniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, Flavio Dal Canto, Giovanni Signore, Federica Morani, Elisa Ceccherini, Stefano Doccini, Filippo Maria Santorelli
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare incurable neurodegenerative disease caused by mutations in the SACS gene, which codes for sacsin, a large protein involved in protein homeostasis, mitochondrial
Externí odkaz:
https://doaj.org/article/b3f9d6025b1443dbb0af7a0a70363fb0
Autor:
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 4-15 (2024)
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cogniti
Externí odkaz:
https://doaj.org/article/2a0b634e5cd440ce9ec3c9e42072fe9c
Akademický článek
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Autor:
Byung Kwon Pi, Yeon Hak Chung, Hyun Su Kim, Soo Hyun Nam, Ah Jin Lee, Da Eun Nam, Hyung Jun Park, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6378 (2024)
Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT
Externí odkaz:
https://doaj.org/article/9c9da76b44204be1bdc0b13d40326986
Autor:
Brenda Toscano Márquez, Tsz Chui Sophia Leung, Jeanette Hui, François Charron, R. Anne McKinney, Alanna J. Watt
Publikováno v:
Neurobiology of Disease, Vol 183, Iss , Pp 106157- (2023)
Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We investigated whether mitochondrial function could be restored in Sacs−/− mice,
Externí odkaz:
https://doaj.org/article/028672de4760470a8af518d9fa8da142
Akademický článek
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Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Hereditary spastic paraplegia 7 (SPG7) is one of the subtypes of autosomal-recessive hereditary spastic paraplegia, which is a clinically heterogeneous neurodegenerative disorder. SPG7 often displays a complicated phenotype, inclu
Externí odkaz:
https://doaj.org/article/621745f7ba6349f39d11dc7cf8ccfc6d
Autor:
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a nu
Externí odkaz:
https://doaj.org/article/de99e0b0ac504981bfdd3b7a8d50c5f7