Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Spastic Paraplegias"'
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
Autor:
Domenico Montanaro, Marinela Vavla, Francesca Frijia, Alessio Coi, Alessandra Baratto, Rosa Pasquariello, Cristina Stefan, Andrea Martinuzzi
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
BackgroundHereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.MethodsA total of 46 patients affected by HSP, genetical
Externí odkaz:
https://doaj.org/article/71b2198e4d3d442baa7f3d7e3052cc6b
Autor:
Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Objective Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST.
Externí odkaz:
https://doaj.org/article/9e1740a5dff44831af5edc7ef8df83e4
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 4 (2024)
Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinica
Externí odkaz:
https://doaj.org/article/568f8d2b099248af9ddfb98705cdd68f
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106293- (2023)
Spastic paraplegia type 11 (SPG11) is a common autosomal recessive form of hereditary spastic paraplegia (HSP) characterized by the degeneration of cortical motor neuron axons, leading to muscle spasticity and weakness. Impaired lipid trafficking is
Externí odkaz:
https://doaj.org/article/5920107ee5f14e7f82e27187ba3e1e37
Autor:
Yongping Chen, Gopinath Krishnan, Sepideh Parsi, Marine Pons, Veroniki Nikolaki, Lu Cao, Zuoshang Xu, Fen-Biao Gao
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-8 (2022)
Abstract Chromosome 3-linked frontotemporal dementia (FTD3) is caused by a gain-of-function mutation in CHMP2B, resulting in the production of a truncated toxic protein, CHMP2BIntron5. Loss-of-function mutations in spastin are the most common genetic
Externí odkaz:
https://doaj.org/article/ba76bacd1a124f0f95d28998e3b5a5e0
Autor:
Diana Maria Cubillos Arcila, Gustavo Dariva Machado, Valéria Feijó Martins, Vanessa Bielefeldt Leotti, Rebecca Schüle, Leonardo Alexandre Peyré-Tartaruga, Jonas Alex Morales Saute
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionHereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative diseases in which little is known about the most appropriate clinical outcome assessments (COAs) to capture disease progression. The objective of this st
Externí odkaz:
https://doaj.org/article/88f24352aa8f4075b514d283f6704bbe
Publikováno v:
MGM Journal of Medical Sciences, Vol 10, Iss 2, Pp 352-354 (2023)
Troyer syndrome, a rare autosomal-recessive disorder, manifests with complex spastic paraplegia. In Ohio, Amish families were the first to be reported with this syndrome. The neurological and musculoskeletal symptoms include short stature, dysarthria
Externí odkaz:
https://doaj.org/article/27cccabaf2ab40cba4abd38c6f91d1a8
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