Cerebral microbleeds: from depiction to interpretation

L Puy, M Pasi, M Rodrigues, SJ Van Veluw… - Journal of Neurology …, 2021 - jnnp.bmj.com
Cerebral microbleeds (CMBs) are defined as hypointense foci visible on T2*-weighted and
susceptible-weighted MRI sequences. CMBs are increasingly recognised with the …

[HTML][HTML] Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association

JF Meschia, BB Worrall, FM Elahi, OA Ross, MM Wang… - Stroke, 2023 - journals.lww.com
Lacunar infarcts and vascular dementia are important phenotypic characteristics of cerebral
autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, the …

Chromosome 10q26–driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium

BL Williams, NA Seager, JD Gardiner… - Proceedings of the …, 2021 - National Acad Sciences
Genome-wide association studies have identified the chromosome 10q26 (Chr10) locus,
which contains the age-related maculopathy susceptibility 2 (ARMS2) and high temperature …

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities

R Malik, N Beaufort, S Frerich, B Gesierich… - Brain, 2021 - academic.oup.com
White matter hyperintensities (WMH) are among the most common radiological
abnormalities in the ageing population and an established risk factor for stroke and …

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients

C Wu, M Wang, X Wang, W Li, S Li, B Chen, S Niu… - Brain, 2023 - academic.oup.com
Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic
disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the …

Arteriolar neuropathology in cerebral microvascular disease

C Fang, SD Magaki, RC Kim, RN Kalaria… - Neuropathology and …, 2023 - Wiley Online Library
Cerebral microvascular disease (MVD) is an important cause of vascular cognitive
impairment. MVD is heterogeneous in aetiology, ranging from universal ageing to the …

Hereditary cerebral small vessel diseases and stroke: a guide for diagnosis and management

S Guey, SAJ Lesnik Oberstein, E Tournier-Lasserve… - Stroke, 2021 - Am Heart Assoc
Cerebral small vessel diseases represent a frequent cause of stroke and cognitive or motor
disability in adults. A small proportion of cerebral small vessel diseases is attributable to …

Monogenic causes of strokes

J Chojdak-Łukasiewicz, E Dziadkowiak, S Budrewicz - Genes, 2021 - mdpi.com
Strokes are the main cause of death and long-term disability worldwide. A stroke is a
heterogeneous multi-factorial condition, caused by a combination of environmental and …

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic

T Coste, D Hervé, JP Neau, E Jouvent, F Ba… - Brain, 2021 - academic.oup.com
Heterozygous missense HTRA1 mutations have been associated with an autosomal
dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous …

[HTML][HTML] 10q26–The enigma in age-related macular degeneration

DA Merle, M Sen, A Armento, CM Stanton… - Progress in Retinal and …, 2023 - Elsevier
Despite comprehensive research efforts over the last decades, the pathomechanisms of age-
related macular degeneration (AMD) remain far from being understood. Large-scale …