Zobrazeno 1 - 10
of 457
pro vyhledávání: '"AXONAL SPHEROIDS"'
Autor:
Paulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, Indiara Correia Pereira, Igor Braga Farias, Renan Brandão Rambaldi Cavalheiro, Patrícia Marques Mendes, Kaliny Oliveira Peixoto, João Paulo Barile, Daniel Delgado Seneor, Eduardo Gleitzmann Correa Silva, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Paulo Sgobbi
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4309-4323 (2024)
Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still
Externí odkaz:
https://doaj.org/article/d3771228b9ee4469b6ffb34d490f9b85
Autor:
Spyros Papapetropoulos, Jeffrey M. Gelfand, Takuya Konno, Takeshi Ikeuchi, Angela Pontius, Andreas Meier, Farid Foroutan, Zbigniew K. Wszolek
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionBecause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysi
Externí odkaz:
https://doaj.org/article/30d07e6c04e94587ada8f8ca4b073be4
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is i
Externí odkaz:
https://doaj.org/article/0777f84f0dca400b85b9b8864f5d3ccf
Akademický článek
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Autor:
Ka Young Lim, Seong-Ik Kim, Hyunhee Kim, Jeongwan Kang, Jin Woo Park, Jae Kyung Won, Dong-Yeop Shin, Sung-Hye Park
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background The objective of this report is to share the clinicopathological features of chemotherapy-induced toxic leukoencephalopathy, which is a rare and under-recognized disease, clinically characterized by rapidly progressive cognitive l
Externí odkaz:
https://doaj.org/article/ddf01dbe3f35463fb60bb442fd11a844
Autor:
Tateki Kikuchi
Publikováno v:
AIMS Molecular Science, Vol 8, Iss 4, Pp 311-324 (2021)
Gracile axonal dystrophy (gad) mouse shows tremor, ataxia and muscular atrophy of hind limbs from about 80-days of age. These clinical features become progressively severe to death. Pathological examination reveals that main and early axonal degenera
Externí odkaz:
https://doaj.org/article/60f860f16e1d447a97629b0581b9181e
Publikováno v:
罕见病研究, Vol 1, Iss 2, Pp 196-198 (2022)
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and
Externí odkaz:
https://doaj.org/article/de473fb288ff481ca6c99755445de3a9
Akademický článek
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Autor:
Conor Delaney, Michael Farrell, Colin P Doherty, Kiva Brennan, Eoin O’Keeffe, Chris Greene, Kieva Byrne, Eoin Kelly, Niamh Birmingham, Paula Hickey, Simon Cronin, Savvas N Savvides, Sarah L Doyle, Matthew Campbell
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 2, Pp 1-17 (2020)
Abstract Cerebrovascular pathologies occur in up to 80% of cases of Alzheimer's disease; however, the underlying mechanisms that lead to perivascular pathology and accompanying blood–brain barrier (BBB) disruption are still not fully understood. We
Externí odkaz:
https://doaj.org/article/9ed5f11fcad84fb6b9cf6cc689b7853f
Autor:
Spyros Papapetropoulos, Angela Pontius, Elizabeth Finger, Virginija Karrenbauer, David S. Lynch, Matthew Brennan, Samantha Zappia, Wolfgang Koehler, Ludger Schoels, Stefanie N. Hayer, Takuya Konno, Takeshi Ikeuchi, Troy Lund, Jennifer Orthmann-Murphy, Florian Eichler, Zbigniew K. Wszolek
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-
Externí odkaz:
https://doaj.org/article/8c6222c963e343d8bf85af5fd93e8f61