Literature DB >> 17823225

The role of genetics in stroke.

John Francis1, Senthil Raghunathan, Pradeep Khanna.   

Abstract

Stroke is a leading cause of death and disability in developed countries. While both modifiable and non-modifiable risk factors are acknowledged, studies have shown that these may account for just 50% of stroke risk and that other factors, including genetic ones, may be important. Over recent years family history, twin and candidate gene studies have supported this and various mendelian stroke syndromes have now been identified in humans. This article provides an up-to-date summary of the common single gene disorders associated with stroke as a principle manifestation, including their genetic basis, pathogenesis, presentation and suggested management. Often these disorders present with stroke at a young age; this article provides a practical approach to the management and investigation of a young stroke patient.

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Year:  2007        PMID: 17823225      PMCID: PMC2600010          DOI: 10.1136/pgmj.2007.060319

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN: 0032-5473            Impact factor:   2.401


  43 in total

1.  ABC of arterial and venous disease. Acute stroke.

Authors:  P M Bath; K R Lees
Journal:  BMJ       Date:  2000-04-01

2.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Authors:  M Pepin; U Schwarze; A Superti-Furga; P H Byers
Journal:  N Engl J Med       Date:  2000-03-09       Impact factor: 91.245

3.  MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL.

Authors:  M O'Sullivan; J M Jarosz; R J Martin; N Deasy; J F Powell; H S Markus
Journal:  Neurology       Date:  2001-03-13       Impact factor: 9.910

4.  Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum.

Authors:  J S van den Berg; R C Hennekam; J R Cruysberg; P M Steijlen; J Swart; N Tijmes; M Limburg
Journal:  Cerebrovasc Dis       Date:  2000 Jul-Aug       Impact factor: 2.762

5.  Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.

Authors:  S Yap; G H Boers; B Wilcken; D E Wilcken; D P Brenton; P J Lee; J H Walter; P M Howard; E R Naughten
Journal:  Arterioscler Thromb Vasc Biol       Date:  2001-12       Impact factor: 8.311

6.  The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.

Authors:  A Joutel; F Andreux; S Gaulis; V Domenga; M Cecillon; N Battail; N Piga; F Chapon; C Godfrain; E Tournier-Lasserve
Journal:  J Clin Invest       Date:  2000-03       Impact factor: 14.808

7.  Genetic liability in stroke: a long-term follow-up study of Danish twins.

Authors:  Søren Bak; David Gaist; Søren Hein Sindrup; Axel Skytthe; Kaare Christensen
Journal:  Stroke       Date:  2002-03       Impact factor: 7.914

8.  Neurovascular complications of marfan syndrome: a retrospective, hospital-based study.

Authors:  Robert J Wityk; Carla Zanferrari; Stephen Oppenheimer
Journal:  Stroke       Date:  2002-03       Impact factor: 7.914

9.  Homocysteine is a risk factor for cerebral small vessel disease, acting via endothelial dysfunction.

Authors:  Ahamad Hassan; Beverley J Hunt; Michael O'Sullivan; Rachel Bell; Reuben D'Souza; Steve Jeffery; John M Bamford; Hugh S Markus
Journal:  Brain       Date:  2003-11-07       Impact factor: 13.501

10.  Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.

Authors:  David F Moore; Gheona Altarescu; Peter Herscovitch; Raphael Schiffmann
Journal:  BMC Neurol       Date:  2002-06-18       Impact factor: 2.474

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  13 in total

Review 1.  Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

Authors:  Christine Sam; Fei-Feng Li; Shu-Lin Liu
Journal:  Metab Brain Dis       Date:  2015-04-21       Impact factor: 3.584

Review 2.  Nucleic Acid Therapies for Ischemic Stroke.

Authors:  Nils Henninger; Yunis Mayasi
Journal:  Neurotherapeutics       Date:  2019-04       Impact factor: 7.620

3.  Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.

Authors:  Baozhong Xin; Stephen Jones; Erik G Puffenberger; Claas Hinze; Alicia Bright; Haiyan Tan; Aimin Zhou; Guiyun Wu; Jilda Vargus-Adams; Dimitris Agamanolis; Heng Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-03-14       Impact factor: 11.205

Review 4.  Genetic susceptibility to cerebrovascular disease.

Authors:  David Della-Morte; Francesca Pacifici; Tatjana Rundek
Journal:  Curr Opin Lipidol       Date:  2016-04       Impact factor: 4.776

5.  Genetic susceptibility to cerebrovascular disease: A systematic review.

Authors:  Christoph J Griessenauer; Sean Farrell; Atom Sarkar; Ramin Zand; Vida Abedi; Neil Holland; Andrew Michael; Christopher L Cummings; Raghu Metpally; David J Carey; Oded Goren; Neil Martin; Philipp Hendrix; Clemens M Schirmer
Journal:  J Cereb Blood Flow Metab       Date:  2018-09-05       Impact factor: 6.200

Review 6.  Blood-Brain Barrier Mechanisms in Stroke and Trauma.

Authors:  Wenlu Li; Fang Cao; Hajime Takase; Ken Arai; Eng H Lo; Josephine Lok
Journal:  Handb Exp Pharmacol       Date:  2022

7.  Stroke in young in India.

Authors:  Manjari Tripathi; Deepti Vibha
Journal:  Stroke Res Treat       Date:  2010-12-16

8.  Morphogenetic Variability and Hypertension in Ischemic Stroke Patients-Preliminary Study.

Authors:  Milan Savic; Suzana Cvjeticanin; Milica Lazovic; Ljubica Nikcevic; Dejan Nikolic
Journal:  J Clin Med       Date:  2018-06-26       Impact factor: 4.241

9.  SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.

Authors:  Wei Li; Baozhong Xin; Junpeng Yan; Ying Wu; Bo Hu; Liping Liu; Yilong Wang; Jinwoo Ahn; Jacek Skowronski; Zaiqiang Zhang; Yongjun Wang; Heng Wang
Journal:  Biomed Res Int       Date:  2015-10-04       Impact factor: 3.411

10.  Association study of C-reactive protein associated gene HNF1A with ischemic stroke in Chinese population.

Authors:  Haibin Shi; Song Leng; Hui Liang; Yan Zheng; Lidian Chen
Journal:  BMC Med Genet       Date:  2016-07-26       Impact factor: 2.103

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