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Lacunar stroke

MedGen UID:
465269
Concept ID:
C3178801
Disease or Syndrome
Synonyms: Lacunar Stroke; Lacunar Strokes; Lacunar Syndrome; Lacunar Syndromes; Stroke, Lacunar; Strokes, Lacunar; Syndrome, Lacunar; Syndromes, Lacunar
SNOMED CT: Lacunar stroke (230698000)
 
HPO: HP:0032325

Definition

A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. [from HPO]

Conditions with this feature

Alpha-N-acetylgalactosaminidase deficiency type 2
MedGen UID:
324539
Concept ID:
C1836522
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
CARASIL syndrome
MedGen UID:
325051
Concept ID:
C1838577
Disease or Syndrome
HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
MedGen UID:
895965
Concept ID:
C4225211
Disease or Syndrome
HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
MedGen UID:
1634330
Concept ID:
C4551768
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Brain small vessel disease 3
MedGen UID:
1677948
Concept ID:
C5193053
Disease or Syndrome
Brain small vessel disease-3 (BSVD3) is an autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration (summary by Miyatake et al., 2018). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).
Oculocerebrodental syndrome
MedGen UID:
1674537
Concept ID:
C5193101
Disease or Syndrome
Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).

Professional guidelines

PubMed

Das AS, Regenhardt RW, Feske SK, Gurol ME
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2055-2078. Epub 2019 May 28 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.004. PMID: 31151838Free PMC Article
Hashimoto J
J Atheroscler Thromb 2017 Aug 1;24(8):765-778. Epub 2017 Jun 10 doi: 10.5551/jat.40717. PMID: 28603219Free PMC Article
Reddy CC, Moroz A, Edgley SR, Lew HL, Chae J, Lombard LA
PM R 2009 Mar;1(3 Suppl):S4-12. doi: 10.1016/j.pmrj.2009.01.015. PMID: 19627971

Recent clinical studies

Etiology

Wardlaw JM, Woodhouse LJ, Mhlanga II, Oatey K, Heye AK, Bamford J, Cvoro V, Doubal FN, England T, Hassan A, Montgomery A, O'Brien JT, Roffe C, Sprigg N, Werring DJ, Bath PM; Lacunar Intervention Trial-2 (LACI-2) Investigator Group
JAMA Neurol 2023 Jul 1;80(7):682-692. doi: 10.1001/jamaneurol.2023.1526. PMID: 37222252Free PMC Article
Markus HS, de Leeuw FE
Int J Stroke 2023 Jan;18(1):4-14. doi: 10.1177/17474930221144911. PMID: 36575578Free PMC Article
Guo MN, Hao XY, Tian J, Wang YC, Li JD, Fan Y, Shi JJ, Ma DR, Li SJ, Zuo CY, Liang YY, Li MJ, Shen S, Liu F, Yao DB, Xu YM, Shi CH
Int J Stroke 2023 Jan;18(1):109-116. Epub 2022 Dec 5 doi: 10.1177/17474930221140792. PMID: 36367219
Das AS, Regenhardt RW, Feske SK, Gurol ME
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2055-2078. Epub 2019 May 28 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.004. PMID: 31151838Free PMC Article
Regenhardt RW, Das AS, Lo EH, Caplan LR
JAMA Neurol 2018 Oct 1;75(10):1273-1281. doi: 10.1001/jamaneurol.2018.1073. PMID: 30167649Free PMC Article

Diagnosis

Markus HS, de Leeuw FE
Int J Stroke 2023 Jan;18(1):4-14. doi: 10.1177/17474930221144911. PMID: 36575578Free PMC Article
Guo MN, Hao XY, Tian J, Wang YC, Li JD, Fan Y, Shi JJ, Ma DR, Li SJ, Zuo CY, Liang YY, Li MJ, Shen S, Liu F, Yao DB, Xu YM, Shi CH
Int J Stroke 2023 Jan;18(1):109-116. Epub 2022 Dec 5 doi: 10.1177/17474930221140792. PMID: 36367219
Das AS, Regenhardt RW, Feske SK, Gurol ME
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2055-2078. Epub 2019 May 28 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.004. PMID: 31151838Free PMC Article
Cannistraro RJ, Badi M, Eidelman BH, Dickson DW, Middlebrooks EH, Meschia JF
Neurology 2019 Jun 11;92(24):1146-1156. Epub 2019 May 29 doi: 10.1212/WNL.0000000000007654. PMID: 31142635Free PMC Article
Esenwa C, Gutierrez J
Vasc Health Risk Manag 2015;11:437-50. Epub 2015 Aug 7 doi: 10.2147/VHRM.S63791. PMID: 26300647Free PMC Article

Therapy

Wardlaw JM, Woodhouse LJ, Mhlanga II, Oatey K, Heye AK, Bamford J, Cvoro V, Doubal FN, England T, Hassan A, Montgomery A, O'Brien JT, Roffe C, Sprigg N, Werring DJ, Bath PM; Lacunar Intervention Trial-2 (LACI-2) Investigator Group
JAMA Neurol 2023 Jul 1;80(7):682-692. doi: 10.1001/jamaneurol.2023.1526. PMID: 37222252Free PMC Article
Markus HS, de Leeuw FE
Int J Stroke 2023 Jan;18(1):4-14. doi: 10.1177/17474930221144911. PMID: 36575578Free PMC Article
Guo MN, Hao XY, Tian J, Wang YC, Li JD, Fan Y, Shi JJ, Ma DR, Li SJ, Zuo CY, Liang YY, Li MJ, Shen S, Liu F, Yao DB, Xu YM, Shi CH
Int J Stroke 2023 Jan;18(1):109-116. Epub 2022 Dec 5 doi: 10.1177/17474930221140792. PMID: 36367219
Traylor M, Persyn E, Tomppo L, Klasson S, Abedi V, Bakker MK, Torres N, Li L, Bell S, Rutten-Jacobs L, Tozer DJ, Griessenauer CJ, Zhang Y, Pedersen A, Sharma P, Jimenez-Conde J, Rundek T, Grewal RP, Lindgren A, Meschia JF, Salomaa V, Havulinna A, Kourkoulis C, Crawford K, Marini S, Mitchell BD, Kittner SJ, Rosand J, Dichgans M, Jern C, Strbian D, Fernandez-Cadenas I, Zand R, Ruigrok Y, Rost N, Lemmens R, Rothwell PM, Anderson CD, Wardlaw J, Lewis CM, Markus HS; Helsinki Stroke, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group; National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network; UK DNA Lacunar Stroke Study Investigators; International Stroke Genetics Consortium
Lancet Neurol 2021 May;20(5):351-361. Epub 2021 Mar 25 doi: 10.1016/S1474-4422(21)00031-4. PMID: 33773637Free PMC Article
Cannistraro RJ, Badi M, Eidelman BH, Dickson DW, Middlebrooks EH, Meschia JF
Neurology 2019 Jun 11;92(24):1146-1156. Epub 2019 May 29 doi: 10.1212/WNL.0000000000007654. PMID: 31142635Free PMC Article

Prognosis

Deguchi I, Takahashi S
J Atheroscler Thromb 2023 Jul 1;30(7):701-709. Epub 2023 May 13 doi: 10.5551/jat.RV22003. PMID: 37183021Free PMC Article
Jiang L, Cai X, Yao D, Jing J, Mei L, Yang Y, Li S, Jin A, Meng X, Li H, Wei T, Wang Y, Pan Y, Wang Y
J Neuroinflammation 2022 May 6;19(1):106. doi: 10.1186/s12974-022-02468-0. PMID: 35513834Free PMC Article
Esenwa C, Gutierrez J
Vasc Health Risk Manag 2015;11:437-50. Epub 2015 Aug 7 doi: 10.2147/VHRM.S63791. PMID: 26300647Free PMC Article
Arboix A, Martí-Vilalta JL
Expert Rev Neurother 2009 Feb;9(2):179-96. doi: 10.1586/14737175.9.2.179. PMID: 19210194
Adams HP Jr, Davis PH, Leira EC, Chang KC, Bendixen BH, Clarke WR, Woolson RF, Hansen MD
Neurology 1999 Jul 13;53(1):126-31. doi: 10.1212/wnl.53.1.126. PMID: 10408548

Clinical prediction guides

Lee KJ, Kim H, Lee SJ, Duperron MG, Debette S, Bae HJ, Sung J
Stroke 2023 Sep;54(9):2338-2346. Epub 2023 Jul 19 doi: 10.1161/STROKEAHA.123.042980. PMID: 37465996Free PMC Article
Regenhardt RW, Das AS, Lo EH, Caplan LR
JAMA Neurol 2018 Oct 1;75(10):1273-1281. doi: 10.1001/jamaneurol.2018.1073. PMID: 30167649Free PMC Article
Esenwa C, Gutierrez J
Vasc Health Risk Manag 2015;11:437-50. Epub 2015 Aug 7 doi: 10.2147/VHRM.S63791. PMID: 26300647Free PMC Article
Staals J, Makin SD, Doubal FN, Dennis MS, Wardlaw JM
Neurology 2014 Sep 30;83(14):1228-34. Epub 2014 Aug 27 doi: 10.1212/WNL.0000000000000837. PMID: 25165388Free PMC Article
Adams HP Jr, Davis PH, Leira EC, Chang KC, Bendixen BH, Clarke WR, Woolson RF, Hansen MD
Neurology 1999 Jul 13;53(1):126-31. doi: 10.1212/wnl.53.1.126. PMID: 10408548

Recent systematic reviews

Yang S, Webb AJS
Eur Stroke J 2023 Dec;8(4):895-903. Epub 2023 Sep 11 doi: 10.1177/23969873231196981. PMID: 37697725Free PMC Article
Makin SDJ, Mubki GF, Doubal FN, Shuler K, Staals J, Dennis MS, Wardlaw JM
J Stroke Cerebrovasc Dis 2017 Dec;26(12):3020-3028. Epub 2017 Sep 8 doi: 10.1016/j.jstrokecerebrovasdis.2017.08.004. PMID: 28889932Free PMC Article
Makin SD, Cook FA, Dennis MS, Wardlaw JM
Cerebrovasc Dis 2015;39(1):39-52. Epub 2014 Dec 24 doi: 10.1159/000369777. PMID: 25547195Free PMC Article
Bailey EL, Smith C, Sudlow CL, Wardlaw JM
Brain Pathol 2012 Sep;22(5):583-91. Epub 2012 Mar 16 doi: 10.1111/j.1750-3639.2012.00575.x. PMID: 22329603Free PMC Article
Doubal FN, Hokke PE, Wardlaw JM
J Neurol Neurosurg Psychiatry 2009 Feb;80(2):158-65. Epub 2008 Oct 17 doi: 10.1136/jnnp.2008.153460. PMID: 18931002

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