Results 31 to 40 of about 24,301 (201)

Repeat expansions in leukoencephalopathy [PDF]

Annals of Neurology, 2019
Peer Reviewed ; https://deepblue.lib.umich.edu/bitstream/2027.42/152577/1/ana25613.pdf ; https://deepblue.lib.umich.edu/bitstream/2027.42/152577/2/ana25613_am ...
openaire   +3 more sources

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Stem Cell Research, 2023
Mutations in Colony-stimulating factor 1 receptor (CSF1R) lead to CSF1R-related leukoencephalopathy, also known as Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rapidly progressing neurodegenerative disease with ...
Anne S. Schmitz, Milena Korneck, Janani Raju, Andrés Lamsfus-Calle, Alberto Daniel-Moreno, Justin S. Antony, Markus Mezger, Ludger Schöls, Stefan Hauser, Stefanie N. Hayer   +9 more
doaj   +1 more source

Diabetes, leukoencephalopathy and rage

Neurobiology of Disease, 2006
Longstanding diabetes mellitus damages kidney, retina, peripheral nerve and blood vessels, but brain is not usually considered a primary target. We describe direct involvement of the brain, particularly white matter, in long-term (9 months) experimental diabetes of mice, not previously modeled, correlating magnetic resonance (MR) imaging with ...
Toth, C, Schmidt, A, Tuor, U, Francis, G, Foniok, T, Brussee, V, Kaur, J, Yan, S, Martinez, J, Barber, P, Buchan, A, Zochodne, D   +11 more
openaire   +3 more sources

Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven, N. Satyadev, A. E. M. Bastiaansen, Y. D. Piura, J. Kerstens, Y. S. Crijnen, J. Brenner, T. Brand, T. M. Bienfait, S. Veenbergen, J. M. de Vries, F. J. de Jong, E. G. P. Dopper, P. A. E. Sillevis Smitt, H. Seelaar, G. S. Day, M. J. Titulaer   +16 more
wiley   +1 more source

MRI in Chemotherapy induced Leukoencephalopathy: Report of Two Cases and Radiologist’s Perspective [PDF]

Journal of Clinical and Diagnostic Research, 2017
Leukoencephalopathy is a progressive white matter disease primarily caused due to myelin damage by a variety of factors. Chemotherapy for oncological treatment is an uncommon but important cause of potentially reversible leukoencephalopathy. In current
Geetika Sindhwani, Manali Arora, Vishal Dhirenbhai Thakker, Abhinav Jain   +3 more
doaj   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

COVID-19-associated leukoencephalopathy in the absence of severe hypoxia with subsequent improvement: a case report

BMC Infectious Diseases, 2022
Background Several cases of coronavirus disease 2019 (COVID-19)-associated leukoencephalopathy have been reported. Although most cases involve hypoxia, the pathophysiological mechanism and neurologic outcomes of COVID-19-associated leukoencephalopathy ...
Hiroki Kojima, Naoya Sakamoto, Atsushi Kosaka, Masayoshi Kobayashi, Mitsuo Amemiya, Takuya Washino, Yusuke Kuwahara, Takuto Ishida, Mayu Hikone, Satoshi Miike, Tatsunori Oyabu, Sentaro Iwabuchi, Fukumi Nakamura-Uchiyama   +12 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source