Literature DB >> 24699489

Genetic stroke syndromes.

Kevin M Barrett, James F Meschia.   

Abstract

PURPOSE OF REVIEW: This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke. RECENT
FINDINGS: Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes.
SUMMARY: Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis.

Entities:  

Mesh:

Year:  2014        PMID: 24699489      PMCID: PMC4234131          DOI: 10.1212/01.CON.0000446109.20539.68

Source DB:  PubMed          Journal:  Continuum (Minneap Minn)        ISSN: 1080-2371


  42 in total

1.  A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Authors:  Fumiaki Kamada; Yoko Aoki; Ayumi Narisawa; Yu Abe; Shoko Komatsuzaki; Atsuo Kikuchi; Junko Kanno; Tetsuya Niihori; Masao Ono; Naoto Ishii; Yuji Owada; Miki Fujimura; Yoichi Mashimo; Yoichi Suzuki; Akira Hata; Shigeru Tsuchiya; Teiji Tominaga; Yoichi Matsubara; Shigeo Kure
Journal:  J Hum Genet       Date:  2010-11-04       Impact factor: 3.172

2.  Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

Authors:  F J Mateen; K Krecke; B R Younge; A L Ford; A Shaikh; P H Kothari; J P Atkinson
Journal:  Neurology       Date:  2010-09-28       Impact factor: 9.910

3.  Stroke With Transfusions Changing to Hydroxyurea (SWiTCH).

Authors:  Russell E Ware; Ronald W Helms
Journal:  Blood       Date:  2012-02-07       Impact factor: 22.113

4.  Effects of intravitreal bevacizumab treatment on proliferative retinopathy in a patient with cerebroretinal vasculopathy.

Authors:  Marcus Kernt; Andreas Gschwendtner; Aljoscha S Neubauer; Martin Dichgans; Christos Haritoglou
Journal:  J Neurol       Date:  2010-02-24       Impact factor: 4.849

5.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression.

Authors:  Katharina Eikermann-Haerter; Izumi Yuzawa; Ergin Dilekoz; Anne Joutel; Michael A Moskowitz; Cenk Ayata
Journal:  Ann Neurol       Date:  2011-02       Impact factor: 10.422

6.  Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.

Authors:  Atsushi Shiga; Hiroaki Nozaki; Akio Yokoseki; Megumi Nihonmatsu; Hirotoshi Kawata; Taisuke Kato; Akihide Koyama; Kunimasa Arima; Mari Ikeda; Shinichi Katada; Yasuko Toyoshima; Hitoshi Takahashi; Akira Tanaka; Imaharu Nakano; Takeshi Ikeuchi; Masatoyo Nishizawa; Osamu Onodera
Journal:  Hum Mol Genet       Date:  2011-02-14       Impact factor: 6.150

7.  Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.

Authors:  A Mehta; M Beck; P Elliott; R Giugliani; A Linhart; G Sunder-Plassmann; R Schiffmann; F Barbey; M Ries; J T R Clarke
Journal:  Lancet       Date:  2009-12-12       Impact factor: 79.321

8.  Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

Authors:  Kenju Hara; Atsushi Shiga; Toshio Fukutake; Hiroaki Nozaki; Akinori Miyashita; Akio Yokoseki; Hirotoshi Kawata; Akihide Koyama; Kunimasa Arima; Toshiaki Takahashi; Mari Ikeda; Hiroshi Shiota; Masato Tamura; Yutaka Shimoe; Mikio Hirayama; Takayo Arisato; Sohei Yanagawa; Akira Tanaka; Imaharu Nakano; Shu-ichi Ikeda; Yutaka Yoshida; Tadashi Yamamoto; Takeshi Ikeuchi; Ryozo Kuwano; Masatoyo Nishizawa; Shoji Tsuji; Osamu Onodera
Journal:  N Engl J Med       Date:  2009-04-23       Impact factor: 91.245

9.  Impact of MRI markers in subcortical vascular dementia: a multi-modal analysis in CADASIL.

Authors:  Anand Viswanathan; Ophelia Godin; Eric Jouvent; Michael O'Sullivan; Andreas Gschwendtner; Nils Peters; Marco Duering; Jean-Pierre Guichard; Markus Holtmannspötter; Carole Dufouil; Chahin Pachai; Marie-Germaine Bousser; Martin Dichgans; Hugues Chabriat
Journal:  Neurobiol Aging       Date:  2008-10-15       Impact factor: 4.673

Review 10.  Shared associations of nonatherosclerotic, large-vessel, cerebrovascular arteriopathies: considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia.

Authors:  Andrew M Southerland; James F Meschia; Bradford B Worrall
Journal:  Curr Opin Neurol       Date:  2013-02       Impact factor: 5.710

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  2 in total

1.  Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.

Authors:  Fawaz Al-Mufti; Ahmed Alkanaq; Krishna Amuluru; Rolla Nuoman; Ahmed Abdulrazzaq; Tamarah Sami; Halla Nuoaman; Caroline Hayes-Rosen; Charles J Prestigiacomo; Chirag D Gandhi
Journal:  J Vasc Interv Neurol       Date:  2017-10

Review 2.  Hemiplegia and headache: a review of hemiplegia in headache disorders.

Authors:  J Ivan Lopez; Ashley Holdridge; John F Rothrock
Journal:  Curr Pain Headache Rep       Date:  2015
  2 in total

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