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Inherited And Uncommon Causes Of Stroke

Jennifer Majersik
Published 2017 · Medicine
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ABSTRACT Purpose of Review: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. Recent Findings: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia. Moyamoya disease can cause either ischemic or hemorrhagic stroke; revascularization is recommended in some patients. Cerebral amyloid angiopathy causes both microhemorrhages and macrohemorrhages, resulting in typical stroke symptoms and progressive dementia. Pregnancy raises the risk of both ischemic and hemorrhagic stroke, particularly in women with preeclampsia/eclampsia. Pregnant women are also at risk for posterior reversible encephalopathy syndrome (PRES), reversible cerebral vasoconstriction syndrome, and cerebral venous sinus thrombosis. Experts recommend that pregnant women with acute ischemic stroke not be systematically denied the potential benefits of IV recombinant tissue plasminogen activator. Summary: Neurologists should become familiar with these uncommon causes of stroke to provide future risk assessment and family counseling and to implement appropriate treatment plans to prevent recurrence.
This paper references
10.1212/WNL.0000000000002214
Cerebral hyperperfusion on arterial spin labeling MRI during CADASIL migrainous encephalopathy
Fiona Catherine Moreton (2015)
10.1161/STR.0000000000000086
Scientific Rationale for the Inclusion and Exclusion Criteria for Intravenous Alteplase in Acute Ischemic Stroke: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Bart M Demaerschalk (2016)
10.1177/1747493015607485
The concept of sporadic cerebral small vessel disease: A road map on key definitions and current concepts
Andreas Charidimou (2016)
10.1007/s00415-010-5500-0
Effects of intravitreal bevacizumab treatment on proliferative retinopathy in a patient with cerebroretinal vasculopathy
Marcus Kernt (2010)
10.1161/STROKEAHA.112.658070
Should intravenous thrombolysis be considered the first option in pregnant women?
J P Broderick (2013)
10.1161/STROKEAHA.116.013320
Added Value of Vessel Wall Magnetic Resonance Imaging in the Differentiation of Moyamoya Vasculopathies in a Non-Asian Cohort
Mahmud Mossa-Basha (2016)
10.1111/1471-0528.12191
Risk of cardiovascular disease after pre-eclampsia and the effect of lifestyle interventions: a literature-based study.
Durk Berks (2013)
10.1007/s11883-012-0252-1
International Epidemiology of Intracerebral Hemorrhage
Mohammad A. Ikram (2012)
10.2147/VHRM.S64798
Preeclampsia: long-term consequences for vascular health
Lorena Machado Amaral (2015)
10.3171/2011.11.JNS11944
The efficacy of superficial temporal artery-middle cerebral artery anastomosis in patients with moyamoya disease complaining of severe headache.
Yoshikazu Okada (2012)
10.1371/journal.pone.0088765
Prospective Screening of Family Members with Moyamoya Disease Patients
Cong Cong Han (2014)
10.1161/STROKEAHA.111.000677
The use of tissue plasminogen-activator in pregnancy: a taboo treatment or a time to think out of the box.
Magdy Selim (2013)
10.1161/STROKEAHA.115.010696
Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prospective Cohort Study
Hugues Chabriat (2016)
10.1016/j.jns.2007.04.015
Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL
Nils Günther Peters (2007)
10.1016/S0084-3954(10)79770-0
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
James A. Stockman (2011)
10.1016/j.jns.2016.05.061
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Hussam Abou Al-Shaar (2016)
10.3949/ccjm.77a.10018
Should anticoagulation be resumed after intracerebral hemorrhage?
J. Goldstein (2010)
10.1016/j.jns.2015.04.047
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations
Xiao Liu (2015)
10.1161/STROKEAHA.112.665927
The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: A Screening Tool to Select Patients for NOTCH3 Gene Analysis
Francesca Pescini (2012)
10.1002/ana.22281
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression.
Katharina Eikermann-Haerter (2011)
10.1016/S1474-4422(13)70124-8
Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration
J. Wardlaw (2013)
10.1016/j.jocn.2012.12.002
Associations and implications of cerebral microbleeds
Timothy John Kleinig (2013)
10.1186/s13023-015-0296-8
Quality of life in patients with Fabry disease: a systematic review of the literature
Maarten Arends (2015)
and leukoaraiosis
RY Tan (2003)
10.1161/STR.0b013e31825bcdac
Inclusion of stroke in cardiovascular risk prediction instruments: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
Daniel T. Lackland (2012)
10.1007/s00415-008-0786-x
The pulvinar sign: frequency and clinical correlations in Fabry disease
A. Burlina (2008)
10.1002/ana.410440506
The phenotypic spectrum of CADASIL: clinical findings in 102 cases.
Martin Dichgans (1998)
10.1136/jmedgenet-2014-102797
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain (2015)
10.1212/WNL.53.1.233
Cerebrospinal fluid findings in CADASIL
Martin Dichgans (1999)
10.2176/nmc.ra.2014-0307
Diagnosis of Moyamoya Disease: International Standard and Regional Differences
M Fujimura (2015)
10.14670/HH-27.1307
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up.
Michele Ragno (2012)
10.1159/000369293
Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease
Andreas Fellgiebel (2014)
10.1093/hmg/ddr063
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.
Atsushi Shiga (2011)
10.1016/S1474-4422(06)70548-8
CNS manifestations of Fabry's disease
Andreas Fellgiebel (2006)
10.1056/NEJMoa0801560
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
Kenju Hara (2009)
10.1161/hs0102.100885
Cerebral Microbleeds in CADASIL: A Gradient-Echo Magnetic Resonance Imaging and Autopsy Study
Martin Dichgans (2002)
10.1212/WNL.0000000000002092
Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy
Radhika Dhamija (2015)
10.2176/NMC.53.541
Endovascular treatment in pregnancy.
Akira I. Ishii (2013)
10.1056/NEJM199609123351102
Pregnancy and the risk of stroke.
S. Kittner (1996)
10.1161/STROKEAHA.114.008548
Brain Magnetic Resonance Imaging Findings Fail to Suspect Fabry Disease in Young Patients With an Acute Cerebrovascular Event
Franz Fazekas (2015)
10.1186/s13023-015-0253-6
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
M. Biegstraaten (2015)
10.1111/j.1440-1789.2004.00550.x
Pathological and immunohistochemical findings of an autopsy case of adult moyamoya disease.
Yoshinori Takekawa (2004)
10.1056/NEJMoa1111840
Thrombotic stroke and myocardial infarction with hormonal contraception.
Øjvind Lidegaard (2012)
10.1212/WNL.0000000000002694
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL
H. Nozaki (2016)
10.1097/01.AOG.0000437382.03963.88
Hypertension in pregnancy. Report of the American College of Obstetricians and Gynecologists’ Task Force on Hypertension in Pregnancy.
James M. Roberts (2013)
AHA Guideline Effectiveness-Based Guidelines for the Prevention of Cardiovascular Disease in Women—2011 Update
Lori Mosca (2011)
10.1212/WNL.56.6.773
Recurrent brain hemorrhage is more frequent than ischemic stroke after intracranial hemorrhage
Renee D Bailey (2001)
10.1371/journal.pone.0157613
CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships
Rhea Yan Ying Tan (2016)
10.1097/01.gco.0000103846.69273.ba
Pregnancy: a stress test for life
D Williams (2003)
10.1212/WNL.57.11.2144
Acetazolamide for the treatment of migraine with aura in CADASIL
Alejandro M. Forteza (2001)
10.5853/jos.2014.16.2.65
Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
M Fujimura (2014)
10.1161/STROKEAHA.112.655894
Statin Therapy and the Risk of Intracerebral Hemorrhage: A Meta-Analysis of 31 Randomized Controlled Trials
James S. McKinney (2012)
10.1161/strokeaha.113.004386
Effects of Extracranial–Intracranial Bypass for Patients With Hemorrhagic Moyamoya Disease: Results of the Japan Adult Moyamoya Trial
S. Miyamoto (2014)
10.1016/S1701-2163(16)35381-6
Ten-year, thirty-year, and lifetime cardiovascular disease risk estimates following a pregnancy complicated by preeclampsia.
Graeme N. Smith (2012)
10.1212/WNL.0000000000001934
Cerebral microbleeds and tissue plasminogen activator
Kevin M. Barrett (2015)
10.1161/STROKEAHA.115.012281
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry
Anna Bersano (2016)
10.1161/STROKEAHA.110.610592
Trends in Pregnancy Hospitalizations That Included a Stroke in the United States From 1994 to 2007: Reasons for Concern?
Elena V. Kuklina (2011)
10.1097/OGX.0000000000000084
Risk of a Thrombotic Event After the 6-Week Postpartum Period
Hooman Kamel (2014)
: a guideline for healthcare professionals from theAmericanHeart Association / American Stroke Association
MH Selim (2013)
update : a guideline from the American Heart Association
EW Seely (2011)
10.1007/s10194-012-0426-9
Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience
Ida Donnini (2012)
10.1097/01.AOA.0000393132.01920.3E
Resolution of Hypertension and Proteinuria After Preeclampsia
Durk Berks (2011)
10.1161/STROKEAHA.110.581918
COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease: A Systematic Review
Silvia Lanfranconi (2010)
10.1016/S0002-9378(97)70327-2
Cerebrovascular disorders complicating pregnancy--beyond eclampsia.
Andrea G. Witlin (1997)
10.1016/S1474-4422(09)70127-9
CADASIL
Hugues Chabriat (2009)
10.1016/J.YANE.2010.12.019
Conscious Sedation Versus General Anesthesia During Endovascular Therapy for Acute Anterior Circulation Stroke: Preliminary Results From a Retrospective, Multicenter Study
Glenn P. Gravlee (2011)
10.1161/01.str.0000442009.06663.48
Guidelines for the Prevention of Stroke in Women: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
C. Bushnell (2014)
10.1001/archneurol.2010.356
Statin use following intracerebral hemorrhage: a decision analysis.
M. Westover (2011)
10.1111/ene.12241
Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from the MIcrovascular LEukoencephalopathy Study (MILES).
Laura Ciolli (2014)
10.1053/j.semperi.2015.05.006
Preeclampsia and future cardiovascular disease in women: How good are the data and how can we manage our patients?
Ellen W. Seely (2015)
10.1016/S0022-510X(03)00172-2
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease
Irenio Gomes (2003)
10.1161/01.STR.0000048162.16852.88
Yield of Screening for CADASIL Mutations in Lacunar Stroke and Leukoaraiosis
Yanbin Dong (2003)
10.1016/j.jacc.2011.02.005
Effectiveness-based guidelines for the prevention of cardiovascular disease in women--2011 update: a guideline from the American Heart Association.
L. Mosca (2011)
10.1136/practneurol-2014-000952
Cerebral amyloid angiopathy: amyloid spells and cortical superficial siderosis
Rebecca Coates (2014)
10.1016/j.jstrokecerebrovasdis.2015.12.006
Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Review of Literature.
Muhammad Taimoor Khan (2016)
10.1016/j.annemergmed.2007.07.003
High-dose atorvastatin after stroke or transient ischemic attack.
John Alan Farmer (2007)
10.1016/j.ahj.2008.06.042
Cardiovascular sequelae of preeclampsia/eclampsia: a systematic review and meta-analyses.
Sarah D McDonald (2008)
10.1161/01.STR.0000236053.37695.15
Advancing the Study of Stroke in Women: Summary and Recommendations for Future Research From an NINDS-Sponsored Multidisciplinary Working Group
C. Bushnell (2006)
10.1007/s00415-012-6468-8
Presymptomatic genetic testing in CADASIL
Santacruz Reyes (2012)
10.1016/S1474-4422(08)70046-2
Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL
M. Dichgans (2008)
10.1212/WNL.0000000000001803
Characteristic features and progression of abnormalities on MRI for CARASIL
H Nozaki (2015)
10.1161/STROKEAHA.106.475194
COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage
Katayoun Vahedi (2007)
10.1212/WNL.0000000000002572
Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy
Benjamin Roeben (2016)
10.1007/978-1-4899-0107-1_4
Guidelines for Prevention, I
Evvie Becker (1998)
Association Focused Update of the 2013 Guidelines for the Early Management of Patients With Acute Ischemic Stroke Regarding Endovascular Treatment
William J Powers (2015)
10.1016/j.neurobiolaging.2010.01.019
ACE variants and risk of intracerebral hemorrhage recurrence in amyloid angiopathy
S. Domingues-Montanari (2011)
10.1016/j.jstrokecerebrovasdis.2012.10.005
Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.
Véronique Dubuc (2013)
10.1212/WNL.56.5.628
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
Michael J O'Sullivan (2001)
10.1212/WNL.56.4.537
Clinical diagnosis of cerebral amyloid angiopathy: Validation of the Boston Criteria
Katherine A Knudsen (2001)
10.1161/STR.0000000000000158
2018 Guidelines for the Early Management of Patients With Acute Ischemic Stroke: A Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association
William J Powers (2018)
10.1186/1750-1172-8-29
Cost-effectiveness of enzyme replacement therapy for Fabry disease
Saskia M. Rombach (2013)
10.1016/j.nec.2010.03.008
Indirect revascularization techniques for treating moyamoya disease.
Neil N Patel (2010)
10.1159/000088665
Transient Neurologic Symptoms Related to Cerebral Amyloid Angiopathy: Usefulness of T2*-Weighted Imaging
Jean Roch (2005)
10.1097/AOG.0b013e31825f287c
Incidence, Risk Factors, Management, and Outcomes of Stroke in Pregnancy
Catherine Ann Scott (2012)
10.1016/j.clineuro.2007.12.001
Aspirin-associated intracerebral hemorrhage in a patient with CADASIL
Jung-Hwan Oh (2008)
Cadasil. Lancet Neurol 2009;8(7):643Y653
H Chabriat (2009)
: preliminary results from a retrospective , multicenter study
GN Smith (2010)
10.1212/WNL.0000000000000816
APOE ε variants increase risk of warfarin-related intracerebral hemorrhage
G. Falcone (2014)
10.1161/STROKEAHA.111.000134
Yes, intravenous thrombolysis should be administered in pregnancy when other clinical and imaging factors are favorable.
A M Demchuk (2013)
10.1111/ane.12266
Changing clinical patterns and increasing prevalence in CADASIL.
Fiona Catherine Moreton (2014)
Preeclampsia-Eclampsia and the Risk of Stroke Among Peripartum in Taiwan
Chao‐HsiunTang (2009)
10.1161/STROKEAHA.118.021270
Letter by Mulder et al Regarding Article, "2018 Guidelines for the Early Management of Patients With Acute Ischemic Stroke: a Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association".
Maxim J.H.L. Mulder (2019)
10.1212/WNL.0b013e3182452b40
Genetic variation at CR1 increases risk of cerebral amyloid angiopathy
A. Biffi (2012)
10.1001/jama.2015.10082
Association Between Blood Pressure Control and Risk of Recurrent Intracerebral Hemorrhage.
A. Biffi (2015)
10.1038/ng2082
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
A. Richards (2007)



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