Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Neurology

Volumn 87, Issue 17, 2016, Pages 1777-1786

  Bugiani, Marianna ^a   Kevelam, Sietske H ^a   Bakels, Hannah S ^a   Waisfisz, Quinten ^a   Ceuterick De Groote, Chantal ^b   Niessen, Hans W M ^a   Abbink, Truus E M ^a   Lesnik Oberstein, Saskia A M J ^c   Van Der Knaap, Marjo S ^a,d  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE C; ENDOTHELIN 1; CTSA PROTEIN, HUMAN; ENDOTHELIN; MICROSATELLITE DNA;

ADULT; ARTICLE; ASTROCYTE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CATHEPSIN A RELATED ARTERIOPATHY WITH STROKE AND LEUKOENCEPHALOPATHY; CEREBROVASCULAR ACCIDENT; CHROMOSOME VARIANT; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GALACTOSIALIDOSIS; GENE SEQUENCE; HAPLOTYPE; HUMAN; IMMUNOREACTIVITY; LEUKOENCEPHALOPATHY; MENTAL DETERIORATION; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROCYTE PROGENITOR; PATTERN RECOGNITION; PRIORITY JOURNAL; RESISTANT HYPERTENSION; AGED; BLEEDING; BRAIN; COMPLICATION; CONGENITAL BLOOD VESSEL MALFORMATION; DIAGNOSTIC IMAGING; FAMILY HEALTH; FEMALE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; METABOLISM; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; ULTRASTRUCTURE;

ADULT; AGED; BRAIN; CATHEPSIN A; ENDOTHELINS; FAMILY HEALTH; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HEMORRHAGE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; STROKE; VASCULAR MALFORMATIONS;

EID: 84992346878     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000003251     Document Type: Article

References (39)

1. Sahathevan R, Brodtmann A, Donnan GA. Dementia, stroke, and vascular risk factors: a review. Int J Stroke 2012;7:61-73.
2. Roman GC, Erkinjuntti T, Wallin A, Pantoni L, Chui HC. Subcortical ischaemic vascular dementia. Lancet Neurol 2002;1:426-436.
3. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
4. Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral smallvessel disease. N Engl J Med 2009;360:1729-1739.
5. Tikka S, Baumann M, Siitonen M, et al. CADASIL and CARASIL. Brain Pathol 2014;24:525-544.
6. Verdura E, Herve D, Scharrer E, et al. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain 2015;138:2347-2358.
7. Gould DB, Phalan FC, van Mil SE, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006;354:1489-1496.
8. Verbeek E, Meuwissen ME, Verheijen FW, et al. COL4A2 mutation associated with familial porencephaly and smallvessel disease. Eur J Hum Genet 2012;20:844-851.
9. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 39-59 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007;39:1068-1070.
10. Revesz T, Holton JL, Lashley T, et al. Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol 2009;118:115-130.
11. Verreault S, Joutel A, Riant F, et al. A novel hereditary small vessel disease of the brain. Ann Neurol 2006;59:353-357.
12. Ding XQ, Hagel C, Ringelstein EB, et al. MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL). J Neuroimaging 2010; 20:134-140.
13. Low WC, Junna M, Borjesson-Hanson A, et al. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain 2007;130:357-367.
14. Hervé D, Chabriat H, Rigal M, et al. A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13. Neurology 2012;79:2283-2287.
15. Kevelam SH, Bugiani M, Salomons GS, et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013; 136:1534-1543.
16. Bugiani M, Boor I, van KB, et al. Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol 2011;70:69-82.
17. Genome of the Netherlands Consortium. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat Genet 2014;46:818-825.
18. Montine TJ, Phelps CH, Beach TG, et al. National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach. Acta Neuropathol 2012;123:1-11.
19. Thornton JM. Disulphide bridges in globular proteins. J Mol Biol 1981;151:261-287.
20. Duering M, Karpinska A, Rosner S, et al. Co-aggregate formation of CADASIL-mutant NOTCH3: a singleparticle analysis. Hum Mol Genet 2011;20:3256-3265.
21. Kiely DG, Cargill RI, Struthers AD, Lipworth BJ. Cardiopulmonary effects of endothelin-1 in man. Cardiovasc Res 1997;33:378-386.
22. Hammond TR, Gadea A, Dupree J, et al. Astrocytederived endothelin-1 inhibits remyelination through notch activation. Neuron 2014;81:588-602.
23. Wardlaw JM, Smith EE, Biessels GJ, et al. Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration. Lancet Neurol 2013;12:822-838.
24. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol 2009;8:643-653.
25. van der Knaap MS, Smit LM, Barkhof F, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006;59:504-511.
26. Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007;357:2687-2695.
27. Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathol 2014;24:510-518.
28. Rudenko G, Bonten E, d'Azzo A, Hol WG. Threedimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism. Structure 1995;3:1249-1259.
29. Kolli N, Garman SC. Proteolytic activation of human cathepsin A. J Biol Chem 2014;289:11592-11600.
30. d'Azzo A, Andria G, Strisciuglio P, Galjaard H. Galactosialidosis. In: Scriver , Beaudet , Sly CRALWS, et al., editors. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001:3811-3826.
31. Strisciuglio P, Parenti G, Giudice C, Lijoi S, Hoogeveen AT, d'Azzo A. The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. Hum Genet 1988;80:304-306.
32. Jellinger KA. The enigma of vascular cognitive disorder and vascular dementia. Acta Neuropathol 2007;113:349-388.
33. Itoh K, Kase R, Shimmoto M, Satake A, Sakuraba H, Suzuki Y. Protective protein as an endogenous endothelin degradation enzyme in human tissues. J Biol Chem 1995; 270:515-518.
34. Pshezhetsky AV, Hinek A. Serine carboxypeptidases in regulation of vasoconstriction and elastogenesis. Trends Cardiovasc Med 2009;19:11-17.
35. Zhang WW, Badonic T, Hoog A, et al. Structural and vasoactive factors influencing intracerebral arterioles in cases of vascular dementia and other cerebrovascular disease: a review. Immunohistochemical studies on expression of collagens, basal lamina components and endothelin-1. Dementia 1994;5:153-162.
36. Seyrantepe V, Hinek A, Peng J, et al. Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1. Circulation 2008;117:1973-1981.
37. Nordborg C, Kyllerman M, Conradi N, Mansson JE. Earlyinfantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. Acta Neuropathol 1997;93:24-33.
38. Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014; 137:1304-1322.
39. Tetreault M, Gonzalez M, Dicaire MJ, et al. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 2015;138:1477-1483.