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Brain small vessel disease 3(BSVD3)

MedGen UID:
1677948
Concept ID:
C5193053
Disease or Syndrome
Synonyms: BRAIN SMALL VESSEL DISEASE 3; BSVD3
 
Gene (location): COLGALT1 (19p13.11)
 
Monarch Initiative: MONDO:0100105
OMIM®: 618360

Definition

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). [from OMIM]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Leukoencephalopathy
MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
Spastic paralysis affecting all four limbs.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Lacunar stroke
MedGen UID:
465269
Concept ID:
C3178801
Disease or Syndrome
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.
Porencephalic cyst
MedGen UID:
906044
Concept ID:
C4082172
Disease or Syndrome
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.

Professional guidelines

PubMed

Jia J, Jiao W, Wang G, Wu J, Huang Z, Zhang Y
Med Res Rev 2024 May;44(3):975-1012. Epub 2023 Dec 21 doi: 10.1002/med.22009. PMID: 38126568
Bieniek KF, Cairns NJ, Crary JF, Dickson DW, Folkerth RD, Keene CD, Litvan I, Perl DP, Stein TD, Vonsattel JP, Stewart W, Dams-O'Connor K, Gordon WA, Tripodis Y, Alvarez VE, Mez J, Alosco ML, McKee AC; TBI/CTE Research Group
J Neuropathol Exp Neurol 2021 Feb 22;80(3):210-219. doi: 10.1093/jnen/nlab001. PMID: 33611507Free PMC Article
Jodele S, Laskin BL, Dandoy CE, Myers KC, El-Bietar J, Davies SM, Goebel J, Dixon BP
Blood Rev 2015 May;29(3):191-204. Epub 2014 Nov 28 doi: 10.1016/j.blre.2014.11.001. PMID: 25483393Free PMC Article

Recent clinical studies

Etiology

Kurz C, Walker L, Rauchmann BS, Perneczky R
Neuropathol Appl Neurobiol 2022 Apr;48(3):e12782. Epub 2022 Feb 2 doi: 10.1111/nan.12782. PMID: 34823269
Chojdak-Łukasiewicz J, Dziadkowiak E, Zimny A, Paradowski B
Adv Clin Exp Med 2021 Mar;30(3):349-356. doi: 10.17219/acem/131216. PMID: 33768739
Wardlaw JM, Benveniste H, Nedergaard M, Zlokovic BV, Mestre H, Lee H, Doubal FN, Brown R, Ramirez J, MacIntosh BJ, Tannenbaum A, Ballerini L, Rungta RL, Boido D, Sweeney M, Montagne A, Charpak S, Joutel A, Smith KJ, Black SE; colleagues from the Fondation Leducq Transatlantic Network of Excellence on the Role of the Perivascular Space in Cerebral Small Vessel Disease
Nat Rev Neurol 2020 Mar;16(3):137-153. Epub 2020 Feb 24 doi: 10.1038/s41582-020-0312-z. PMID: 32094487
Hu X, De Silva TM, Chen J, Faraci FM
Circ Res 2017 Feb 3;120(3):449-471. doi: 10.1161/CIRCRESAHA.116.308427. PMID: 28154097Free PMC Article
McKee AC, Stein TD, Kiernan PT, Alvarez VE
Brain Pathol 2015 May;25(3):350-64. doi: 10.1111/bpa.12248. PMID: 25904048Free PMC Article

Diagnosis

David C, Sacré K, Henri-Feugeas MC, Klein I, Doan S, Cohen FA, Jouvent E, Papo T
Autoimmun Rev 2022 Jun;21(6):103097. Epub 2022 Apr 10 doi: 10.1016/j.autrev.2022.103097. PMID: 35413469
Chojdak-Łukasiewicz J, Dziadkowiak E, Zimny A, Paradowski B
Adv Clin Exp Med 2021 Mar;30(3):349-356. doi: 10.17219/acem/131216. PMID: 33768739
Mckee AC, Abdolmohammadi B, Stein TD
Handb Clin Neurol 2018;158:297-307. doi: 10.1016/B978-0-444-63954-7.00028-8. PMID: 30482357
McKee AC, Stein TD, Kiernan PT, Alvarez VE
Brain Pathol 2015 May;25(3):350-64. doi: 10.1111/bpa.12248. PMID: 25904048Free PMC Article
Jodele S, Laskin BL, Dandoy CE, Myers KC, El-Bietar J, Davies SM, Goebel J, Dixon BP
Blood Rev 2015 May;29(3):191-204. Epub 2014 Nov 28 doi: 10.1016/j.blre.2014.11.001. PMID: 25483393Free 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
Harshfield EL, Georgakis MK, Malik R, Dichgans M, Markus HS
Stroke 2021 Mar;52(3):931-936. Epub 2021 Feb 4 doi: 10.1161/STROKEAHA.120.031710. PMID: 33535786Free PMC Article
Samanta D, Cobb S, Arya K
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2098-2108. Epub 2019 May 31 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.013. PMID: 31160219
Li Q, Yang Y, Reis C, Tao T, Li W, Li X, Zhang JH
Cell Transplant 2018 Dec;27(12):1711-1722. Epub 2018 Sep 25 doi: 10.1177/0963689718795148. PMID: 30251566Free PMC Article
Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG
Lancet Neurol 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9. PMID: 19539236

Prognosis

Jacob MA, Ekker MS, Allach Y, Cai M, Aarnio K, Arauz A, Arnold M, Bae HJ, Bandeo L, Barboza MA, Bolognese M, Bonardo P, Brouns R, Chuluun B, Chuluunbatar E, Cordonnier C, Dagvajantsan B, Debette S, Don A, Enzinger C, Ekizoglu E, Fandler-Höfler S, Fazekas F, Fromm A, Gattringer T, Hora TF, Jern C, Jood K, Kim YS, Kittner S, Kleinig T, Klijn CJM, Kõrv J, Kumar V, Lee KJ, Lee TH, Maaijwee NAM, Martinez-Majander N, Marto J, Mehndiratta MM, Mifsud V, Montanaro V, Pacio G, Patel VB, Phillips MC, Piechowski-Jozwiak B, Pikula A, Ruiz-Sandoval J, von Sarnowski B, Swartz RH, Tan KS, Tanne D, Tatlisumak T, Thijs V, Viana-Baptista M, Vibo R, Wu TY, Yesilot N, Waje-Andreassen U, Pezzini A, Putaala J, Tuladhar AM, de Leeuw FE
Neurology 2022 Feb 8;98(6):e573-e588. Epub 2021 Dec 14 doi: 10.1212/WNL.0000000000013195. PMID: 34906974Free PMC Article
Kurz C, Walker L, Rauchmann BS, Perneczky R
Neuropathol Appl Neurobiol 2022 Apr;48(3):e12782. Epub 2022 Feb 2 doi: 10.1111/nan.12782. PMID: 34823269
Rizzoni D, Rizzoni M, Nardin M, Chiarini G, Agabiti-Rosei C, Aggiusti C, Paini A, Salvetti M, Muiesan ML
High Blood Press Cardiovasc Prev 2019 Jun;26(3):183-189. Epub 2019 May 29 doi: 10.1007/s40292-019-00320-w. PMID: 31144248
Charidimou A, Imaizumi T, Moulin S, Biffi A, Samarasekera N, Yakushiji Y, Peeters A, Vandermeeren Y, Laloux P, Baron JC, Hernandez-Guillamon M, Montaner J, Casolla B, Gregoire SM, Kang DW, Kim JS, Naka H, Smith EE, Viswanathan A, Jäger HR, Al-Shahi Salman R, Greenberg SM, Cordonnier C, Werring DJ
Neurology 2017 Aug 22;89(8):820-829. Epub 2017 Jul 26 doi: 10.1212/WNL.0000000000004259. PMID: 28747441Free PMC Article
Jodele S, Laskin BL, Dandoy CE, Myers KC, El-Bietar J, Davies SM, Goebel J, Dixon BP
Blood Rev 2015 May;29(3):191-204. Epub 2014 Nov 28 doi: 10.1016/j.blre.2014.11.001. PMID: 25483393Free PMC Article

Clinical prediction guides

Cordon J, Duggan MR, Gomez GT, Pucha KA, Peng Z, Dark HE, Davatzikos C, Erus G, Lewis A, Moghekar A, Candia J, Ferrucci L, Kapogiannis D, Walker KA
Stroke 2023 Nov;54(11):2853-2863. Epub 2023 Oct 10 doi: 10.1161/STROKEAHA.123.043908. PMID: 37814955Free PMC Article
Zhao Y, Zhu Y, Li F, Sun Y, Ma W, Wu Y, Zhang W, Wang Z, Yuan Y, Huang Y
J Neurol 2023 Oct;270(10):4939-4948. Epub 2023 Jun 25 doi: 10.1007/s00415-023-11826-8. PMID: 37356023Free PMC Article
Perosa V, Oltmer J, Munting LP, Freeze WM, Auger CA, Scherlek AA, van der Kouwe AJ, Iglesias JE, Atzeni A, Bacskai BJ, Viswanathan A, Frosch MP, Greenberg SM, van Veluw SJ
Acta Neuropathol 2022 Mar;143(3):331-348. Epub 2021 Dec 20 doi: 10.1007/s00401-021-02393-1. PMID: 34928427Free PMC Article
Kurz C, Walker L, Rauchmann BS, Perneczky R
Neuropathol Appl Neurobiol 2022 Apr;48(3):e12782. Epub 2022 Feb 2 doi: 10.1111/nan.12782. PMID: 34823269
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

Recent systematic reviews

Sharma B, Wang M, McCreary CR, Camicioli R, Smith EE
Age Ageing 2023 Mar 1;52(3) doi: 10.1093/ageing/afad011. PMID: 37000039Free PMC Article
Blumen HM, Jayakody O, Verghese J
Int J Stroke 2023 Jan;18(1):53-61. Epub 2022 Sep 9 doi: 10.1177/17474930221114562. PMID: 35797006Free PMC Article
Kurz C, Walker L, Rauchmann BS, Perneczky R
Neuropathol Appl Neurobiol 2022 Apr;48(3):e12782. Epub 2022 Feb 2 doi: 10.1111/nan.12782. PMID: 34823269
Clancy U, Gilmartin D, Jochems ACC, Knox L, Doubal FN, Wardlaw JM
Lancet Psychiatry 2021 Mar;8(3):225-236. Epub 2021 Feb 1 doi: 10.1016/S2215-0366(20)30431-4. PMID: 33539776
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

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