Results 91 to 100 of about 9,876 (239)

Brief Screening of Vascular Cognitive Impairment in Patients With Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Without Dementia. [PDF]

, 2016
BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic form of cerebral small vessel disease leading to early-onset stroke and dementia, with younger patients frequently
Brookes, Rebecca L, Hollocks, Matthew J, Markus, Hugh S, Morris, Robin G, Tan, Rhea YY   +4 more
core   +2 more sources

Atypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Анналы клинической и экспериментальной неврологии, 2017
C Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary CNS disease with autosomal dominant inheritance caused by NOTCH3 gene mutations. In classic cases, CADASIL manifests with headaches,
Anna A. Moroz, Natalia Yu. Abramycheva, Ekaterina O. Ivanova, Rodion N. Konovalov, Sofiya L. Timerbaeva, Sergey N. Illarioshkin   +5 more
doaj   +1 more source

Non‐APOE variants predominately expressed in smooth muscle cells contribute to the influence of Alzheimer's disease genetic risk on white matter hyperintensities

Alzheimer's &Dementia, Volume 21, Issue 2, February 2025.
Abstract INTRODUCTION White matter hyperintensity volumes (WMHVs) are disproportionally prevalent in individuals with Alzheimer's disease (AD), potentially reflecting neurovascular injury. We quantify the association between AD polygenic risk score (AD‐PRS) and WMHV, exploring single‐nucleotide polymorphisms (SNPs) that are proximal to genes ...
Hannah Louise Chandler, Joshua Wheeler, Valentina Escott‐Price, Kevin Murphy, Thomas Matthew Lancaster   +4 more
wiley   +1 more source

White Matter Hyperintensities: Cerebral Small‐Vessel Diseases and White Matter Microstructural Impairments

iRADIOLOGY, Volume 3, Issue 1, Page 5-25, February 2025.
White matter hyperintensity (WMH) is a common imaging feature in aging populations, strongly linked to cerebral small‐vessel disease, microstructural impairments, Alzheimer's disease, and hypertension. This review explores WMH through epidemiology, clinical presentation, pathogenesis, imaging characteristics, and treatment strategies.
Hui Huang, Wei Song, Pengyu Wang, Ye Zhu, Lei Zheng, Chenzhen Shen, Hui Xu, Jianfeng Qiu   +7 more
wiley   +1 more source

Microvascular Pathology and Morphometrics of Sporadic and Hereditary Small Vessel Diseases of the Brain [PDF]

, 2014
Small vessel diseases (SVDs) of the brain are likely to become increasingly common in tandem with the rise in the aging population. In recent years, neuroimaging and pathological studies have informed on the pathogenesis of sporadic SVD and several ...
Adler, Alafuzoff, Arvanitakis, Bailey, Baker, Bell, Brown, Brown, Brown, Brown, Brown, Brulin-Fardoux, Brun, Burke, Carare, Caronti, Chabriat, Colmant, Craggs, Craggs, Cumurciuc, Dalkara, Debette, Deramecourt, Ding, Dubois, Dubois, Dziewulska, Emre, Esiri, Fazekas, Fernando, Ferrer, Foster, Furuta, Furuyama, Gamble, Giwa, Gold, Gould, Gould, Grand, Grinberg, Hachinski, Hagel, Hara, Haritoglou, Hassan, Hawkes, Hirabayashi, Ho, Hoffmann, Huang, Ihara, Janaway, Jellinger, Jen, Jouvent, Jouvent, Kalaria, Kalaria, Kalaria, Kalimo, Kalimo, Kinoshita, Kovari, Kovari, Kuo, Lammie, Lammie, Lanfranconi, Lesnik Oberstein, Liem, Liu, Low, McKeith, Miao, Miao, Miao, Moody, Neuropathology Group, Nichtweiss, O'Sullivan, Okamoto, Okamoto, Okeda, Okeda, Okeda, Ophoff, Pantoni, Patankar, Plaisier, Polvikoski, Roman, Ruchoux, Savva, Schmidt, Schmidt, Sibon, Simpson, Simpson, Smallwood, Soontornniyomkij, Sorbi, Sourander, Suter, Swieten, Tanoi, Terwindt, Vahedi, Vahedi, Van der Flier, Verreault, Viswanathan, Viswanathan, Volonghi, Wardlaw, Wardlaw, Wardlaw, Winkler, Yamamoto, Yamamoto, Yamamoto, Yanagawa, Yao, Yao, Yemisci, Zhang, Zhu   +128 more
core   +1 more source

Neuropsychiatric manifestations in CADASIL

Dialogues in Clinical Neuroscience, 2007
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small-artery disease of mid-adulthood caused by mutations of the NOTCH3 gene. The disease is responsible for widespread white-matter lesions associated with lacunar infarctions in various subcortical areas. The disease is responsible for
Marie-Germaine Bousser, Hugues Chabriat
openaire   +4 more sources

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine

Clinical Genetics, Volume 107, Issue 2, Page 157-168, February 2025.
PathVar, a customisable next‐generation sequencing (NGS) variant calling algorithm, has been employed to investigate genes potentially implicated in hemiplegic migraine (HM). This approach enabled the identification of several candidate genes associated with HM, including SLC38A10, AMPD1, APC2, PADI3, FRAS1, SETX, PRAG1 and GSE1.
Mohammed M. Alfayyadh, Neven Maksemous, Heidi G. Sutherland, Rodney A. Lea, Lyn R. Griffiths   +4 more
wiley   +1 more source

Adaptive metabolic changes in CADASIL white matter [PDF]

, 2018
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important genetic cause of stroke, but pathogenic mechanisms and functional alterations remain poorly characterized.
Akhvlediani, Tamar, Boesiger, Peter, Henning, Anke, Jung, Hans, Sándor, Peter   +4 more
core  

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL [PDF]

, 2014
Background and Purpose—White matter hyperintensities (WMH) on MRI are a quantitative marker for sporadic cerebral small vessel disease and are highly heritable.
Adib-Samii, P., Bevan, S., Boon, E. M. J., Bracoud, L., Chabriat, H., De Stefano, N., Dichgans, M., Dotti, M. T., Duering, M., Federico, A., Gonik, M., Herve, D., Jouvent, E., Lesnik Oberstein, S., Liem, M., Malik, R., Markus, H. S., Meitinger, T., Muller-Myhsok, B., Opherk, C., Pachai, C., Pantoni, L., Pescini, F., Pianese, L., Ragno, M., Rosand, J., Rost, N., Silvestri, S., Tournier-Lasserve, E.   +28 more
core   +1 more source

Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [PDF]

, 2000
Objectives: To evaluate visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Alessandro Malandrini, Daniela Gregori, Diego Olzi, FATTAPPOSTA, FRANCESCO, Paola Carrera, PARISI, Leoluca, PIERELLI, Francesco, Rita Restuccia, Vincenzo Parisi   +8 more
core   +1 more source