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Genetic cerebral vessel disease

Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with familial hemiplegic migraine and several ataxia disorders as well as the location of the currently identified causative mutations...
November 24, 2016: Human Genomics
Celine Baron-Menguy, Valérie Domenga-Denier, Lamia Ghezali, Frank M Faraci, Anne Joutel
CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy), the most frequent genetic cause of stroke and vascular dementia, is caused by highly stereotyped mutations in the NOTCH3 receptor, which is predominantly expressed in vascular smooth muscle. The well-established TgNotch3(R169C) mouse model develops characteristic features of the human disease, with deposition of NOTCH3 and other proteins, including TIMP3 (tissue inhibitor of metalloproteinase 3), on brain vessels, as well as reduced maximal dilation, and attenuated myogenic tone of cerebral arteries, but without elevated blood pressure...
November 7, 2016: Hypertension
Ryosuke Tashiro, Miki Fujimura, Kuniyasu Niizuma, Hidenori Endo, Hiroyuki Sakata, Mika Sato-Maeda, Teiji Tominaga
BACKGROUND: The de novo development of moyamoya disease (MMD) in adults is extremely rare, with only 2 cases being previously reported. Furthermore, the mechanisms underlying the progression of adult MMD have not been elucidated yet. CASE REPORT: A transient ischemic attack occurred in a 46-year-old woman, owing to progressive MMD. Magnetic resonance (MR) angiography performed 7 years before the diagnosis of MMD did not detect any steno-occlusive changes in the major intracranial vessels, including the internal carotid artery (ICA) and the middle cerebral artery (MCA)...
October 24, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Marianna Bugiani, Sietske H Kevelam, Hannah S Bakels, Quinten Waisfisz, Chantal Ceuterick-de Groote, Hans W M Niessen, Truus E M Abbink, Saskia A M J Lesnik Oberstein, Marjo S van der Knaap
OBJECTIVE: To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy and strokes and identify the underlying genetic cause. METHODS: We applied MRI pattern recognition, whole-exome sequencing, and neuropathology. RESULTS: Based on brain imaging, 13 family members of 40 years or older from 2 families were diagnosed with the disease; in 11 family members of the same age, MRI was normal. In the affected family members, MRI showed a leukoencephalopathy that was disproportionately severe compared to the clinical disease...
October 25, 2016: Neurology
Shinji Ito, Masaki Takao, Toshio Fukutake, Hiroyuki Hatsuta, Sayaka Funabe, Nobuo Ito, Yutaka Shimoe, Toshiro Niki, Imaharu Nakano, Masashi Fukayama, Shigeo Murayama
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a nonhypertensive hereditary cerebral small vessel disease that is caused by mutations in a single gene, HTRA1 The HTRA1 protein normally represses transforming growth factor-β (TGF-β) signaling and its mutations result in vascular changes. Ten homozygous, 1 compound heterozygous, and 1 homozygous frameshift mutation have been identified in the HTRA1 gene of patients with genetically confirmed CARASIL...
September 15, 2016: Journal of Neuropathology and Experimental Neurology
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
Shuhan Zhu, Stephanie J Nahas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule...
October 2016: Current Pain and Headache Reports
Printha Wijesinghe, S K Shankar, T C Yasha, Catherine Gorrie, Dhammika Amaratunga, Sanjayah Hulathduwa, K Sunil Kumara, Kamani Samarasinghe, Yoo-Hun Suh, Harry W M Steinbusch, K Ranil D De Silva
BACKGROUND: Evidence from various consortia on vascular contributions has been inconsistent in determining the etiology of sporadic Alzheimer's disease (AD). OBJECTIVE: To investigate vascular risk factors and cerebrovascular pathologies associated in manifestation of AD-related neuropathological changes of an elderly population. METHODS: Postmortem brain samples from 76 elderly subjects (≥50 years) were used to study genetic polymorphisms, intracranial atherosclerosis of the circle of Willis (IASCW), and microscopic infarcts in deep white matters...
October 18, 2016: Journal of Alzheimer's Disease: JAD
Sara Shams, Juha Martola, Andreas Charidimou, Lena Cavallin, Tobias Granberg, Mana Shams, Yngve Forslin, Peter Aspelin, Maria Kristoffersen-Wiberg, Lars-Olof Wahlund
OBJECTIVE: To gain further insight into cortical superficial siderosis (cSS), a new hemorrhagic neuroimaging marker of cerebral amyloid angiopathy (CAA), and to investigate the clinical, neuroimaging, genetic, and CSF biomarker profile of cSS in a large, consecutive memory clinic series. METHODS: We included 1,504 memory clinic patients undergoing dementia investigation including a brain MRI in our center. Routine CSF biomarker analysis was performed in 1,039 patients and APOE genotyping in 520 patients...
September 13, 2016: Neurology
Marek Postula, Piotr K Janicki, Lukasz Milanowski, Justyna Pordzik, Ceren Eyileten, Michal Karlinski, Pawel Wylezol, Marta Solarska, Anna Czlonkowka, Iwona Kurkowska-Jastrzebka, Shigekazu Sugino, Yuka Imamura, Dagmara Mirowska-Guzel
Platelets are critically involved in the development of cerebral ischemia. Our study aimed to establish an association between frequent (minor allele frequency (MAF) > 5%) genetic polymorphisms in 84 candidate genetic loci previously linked to platelet reactivity by the use of next-generation sequencing of exons from pooled DNA samples in Polish patients with a history of large-vessel ischemic stroke. Genetic analysis was performed on blood samples obtained from 500 patients (diagnosed with acute non-cardioembolic ischemic stroke with coexisting large-artery atherosclerosis) and age/sex/history of smoking matching 500 controls of Polish origin with high risk of cardiovascular disease...
August 17, 2016: Platelets
Ebru Baykara, Benno Gesierich, Ruth Adam, Anil Man Tuladhar, J Matthijs Biesbroek, Huiberdina L Koek, Stefan Ropele, Eric Jouvent, Hugues Chabriat, Birgit Ertl-Wagner, Michael Ewers, Reinhold Schmidt, Frank-Erik de Leeuw, Geert Jan Biessels, Martin Dichgans, Marco Duering
OBJECTIVE: To establish a fully automated, robust imaging marker for cerebral small vessel disease (SVD) and related cognitive impairment that is easy to implement, reflects disease burden, and is strongly associated with processing speed, the predominantly affected cognitive domain in SVD. METHODS: We developed a novel magnetic resonance imaging marker based on diffusion tensor imaging, skeletonization of white matter tracts, and histogram analysis. The marker (peak width of skeletonized mean diffusivity [PSMD]) was assessed along with conventional SVD imaging markers...
October 2016: Annals of Neurology
Alessandro Biffi, Abbas Rattani, Christopher D Anderson, Alison M Ayres, Edip M Gurol, Steven M Greenberg, Jonathan Rosand, Anand Viswanathan
Late seizures after intracerebral haemorrhage occur after the initial acute haemorrhagic insult subsides, and represent one of its most feared long-term sequelae. Both susceptibility to late seizures and their functional impact remain poorly characterized. We sought to: (i) compare patients with new-onset late seizures (i.e. delayed seizures), with those who experienced a recurrent late seizure following an immediately post-haemorrhagic seizure; and (ii) investigate the effect of late seizures on long-term functional performance after intracerebral haemorrhage...
August 6, 2016: Brain: a Journal of Neurology
Valeria Colaianni, Rosalucia Mazzei, Sebastiano Cavallaro
Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been recently identified as a new tool for understanding the genetic basis of many diseases. This review discusses the current understanding of the types of stroke, the existing knowledge on the involvement of specific CNVs in stroke as well as the limitations of the methods used for detecting CNVs like SNP-microarray...
December 2016: Neurological Sciences
Graham R Serjeant
The sickle cell gene in India represents a separate occurrence of the HbS mutations from those in Africa. Sickle cell disease in India occurs against different genetic and environmental backgrounds from those seen in African patients and there is evidence of clinical differences between the populations. Knowledge of the clinical features of African disease was drawn from the Jamaican Cohort Study, based on prospective follow up of all cases of sickle cell disease detected by the screening of 100,000 consecutive newborns in Kingston, Jamaica, and supplemented by observations from the Cooperative Study of Sickle Cell Disease in the US...
April 2016: Indian Journal of Medical Research
Pradeep Kumar, Arun Kumar Yadav, Shubham Misra, Amit Kumar, Kamalesh Chakravarty, Kameshwar Prasad
The role of anti-inflammatory Interleukin-10 (IL-10) cytokine gene polymorphism with the risk of ischemic stroke (IS) remains controversial. The aim of present meta-analysis was to investigate the association of IL-10 (-1082 A/G) gene polymorphism with the risk of IS. A literature search for candidate gene association studies published before 29 February 2016 was conducted in the PubMed, EMBASE, Google Scholar, and TRIP database. The following search terms were used: 'Interleukin-10' or 'IL-10' and 'Ischemic stroke' or 'IS' and 'Cerebral Infarction' or 'CI' and 'genetic polymorphism' or 'single nucleotide polymorphisms' or 'SNP'...
September 2016: Neurological Research
Barry I Freedman, Crystal A Gadegbeku, R Nick Bryan, Nicholette D Palmer, Pamela J Hicks, Lijun Ma, Michael V Rocco, S Carrie Smith, Jianzhao Xu, Christopher T Whitlow, Benjamin C Wagner, Carl D Langefeld, Amret T Hawfield, Jeffrey T Bates, Alan J Lerner, Dominic S Raj, Mohammad S Sadaghiani, Robert D Toto, Jackson T Wright, Donald W Bowden, Jeff D Williamson, Kaycee M Sink, Joseph A Maldjian, Nicholas M Pajewski, Jasmin Divers
To assess apolipoprotein L1 gene (APOL1) renal-risk-variant effects on the brain, magnetic resonance imaging (MRI)-based cerebral volumes and cognitive function were assessed in 517 African American-Diabetes Heart Study (AA-DHS) Memory IN Diabetes (MIND) and 2568 hypertensive African American Systolic Blood Pressure Intervention Trial (SPRINT) participants without diabetes. Within these cohorts, 483 and 197 had cerebral MRI, respectively. AA-DHS participants were characterized as follows: 60.9% female, mean age of 58...
August 2016: Kidney International
Eric Jouvent, Laurent Puy, Hugues Chabriat
Cerebrovascular pathologies expose patients to both ischemic and hemorrhagic risks. Given the progressive aging of populations, more and more patients will experience both types of events during their lifetime. The generalization of brain magnetic resonance imaging as a first-line imaging modality for evaluating patients with cerebrovascular diseases has led to the need to manage new types of imaging information about the cerebral tissue, such as the presence, location, and number of cerebral microhemorrhages (CMs)...
August 2016: Current Treatment Options in Neurology
Guido J Falcone, Jonathan Rosand
Spontaneous, nontraumatic intracerebral hemorrhage (ICH) is the most severe manifestation of common forms of cerebral small vessel disease. Although ICH represents only 15% of all strokes, it accounts for a large proportion of stroke-related costs and mortality. Preventive and acute treatments remain limited. Because genetic variation contributes substantially to ICH, genomic analyses constitute a powerful tool to identify new biological mechanisms involved in its occurrence. Through translational research efforts, these newly identified mechanisms can become targets for innovative therapeutic interventions...
June 2016: Seminars in Neurology
Dan He, Daiqi Chen, Xuefei Li, Zheng Hu, Zhiyuan Yu, Wei Wang, Xiang Luo
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder caused by mutations in the NOTCH3 gene. Although CADASIL scale is a widely used tool to screen clinically suspected CADASIL patients, the differential effects of this scale in various populations remain unknown. METHODS: 92 CADASIL-like patients and 24 CADASIL patients were selected based on CADASIL scale and gene tests...
2016: Journal of Headache and Pain
Panagiotis Fotiadis, Sanneke van Rooden, Jeroen van der Grond, Aaron Schultz, Sergi Martinez-Ramirez, Eitan Auriel, Yael Reijmer, Anna M van Opstal, Alison Ayres, Kristin M Schwab, Alzheimer's Disease Neuroimaging Initiative Adni, Trey Hedden, Jonathan Rosand, Anand Viswanathan, Marieke Wermer, Gisela M Terwindt, Reisa A Sperling, Jonathan R Polimeni, Keith A Johnson, Mark A van Buchem, Steven M Greenberg, M Edip Gurol
BACKGROUND: Loss of cortical grey matter is a diagnostic marker of many neurodegenerative diseases, and is a key mediator of cognitive impairment. We postulated that cerebral amyloid angiopathy (CAA), characterised by cortical vascular amyloid deposits, is associated with cortical tissue loss independent of parenchymal Alzheimer's disease pathology. We tested this hypothesis in patients with hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D), a monogenetic disease with minimal or no concomitant Alzheimer's disease pathology, as well as in patients with sporadic CAA and healthy and Alzheimer's disease controls...
July 2016: Lancet Neurology
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