Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

Brain

Volumn 138, Issue 8, 2015, Pages 2347-2358

  Verdura, Edgard ^a,b   Hervé, Dominique ^a,b,c   Scharrer, Eva ^d   Amador, Maria Del Mar ^c   Guyant Maréchal, Lucie ^e   Philippi, Anne ^a,b   Corlobé, Astrid ^f   Bergametti, Françoise ^a,b   Gazal, Steven ^g   Prieto Morin, Carol ^a,b,c   Beaufort, Nathalie ^d   Le Bail, Benoit ^h   Viakhireva, Irina ⁱ   Dichgans, Martin ^d,j   Chabriat, Hugues ^a,b,c   Haffner, Christof ^d   Tournier Lasserve, Elisabeth ^a,b,c  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e HÔPITAL CHARLES NICOLLE   (France)

^f GUI DE CHAULIAC HOSPITAL   (France)

^g BICHAT HOSPITAL   (France)

^h CH Bretagne Sud   (France)

ⁱ SERVICE DE RHUMATOLOGIE   (France)

^j Technische Universität München Munich Cluster for Systems Neurology   (Germany)

more..

Author keywords

CADASIL; CARASIL; HTRA1; small vessel disease; vascular dementia

Indexed keywords

PROTEINASE; HTRA1 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CADASIL; CARBOXY TERMINAL SEQUENCE; CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCT AND LEUCOENCEPHALOPATHY; CEREBROVASCULAR DISEASE; CLINICAL FEATURE; COMPUTER MODEL; CONTROLLED STUDY; DATA BASE; EXOME; FAMILIAL DISEASE; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HTRA1 GENE; HUMAN; HUMAN CELL; IN VITRO STUDY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PDZ DOMAIN; PHYLOGENY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; GENETIC PREDISPOSITION; GENETICS; MUTATION; PROCEDURES; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; CADASIL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION; SERINE ENDOPEPTIDASES;

EID: 84940031959     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv155     Document Type: Article

References (19)

1. Bayrakli F, Balaban H, Gurelik M, Hizmetli S, Topaktas S. Mutation in HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome. Turkish Neurosurg 2012; 24: 67-9.
2. Beaufort N, Scharrer E, Kremmer E, Lux V, Ehrmann M, Hubert R, et al. Cerebral small vessel disease-related protease Htra1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling. Proc Natl Acad Sci USA 2014; 111: 16496-501.
3. Bianchi S, Di Palma C, Gallus GN, Taglia I, Poggiani A, Rosini F, et al. Two novel HTRA1 mutations in a European CARASIL patient. Neurology 2014; 82: 898-900.
4. Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, et al. Mutations in Kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012; 482: 98-102.
5. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil [Review]. Lancet Neurol 2009; 8: 643-53.
6. Chen Y, He Z, Meng S, Li L, Yang H, Zhang X. A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). J Int Med Res 2013; 41: 1445-55.
7. Clausen T, Southan C, Ehrmann M. The HTRA family of proteases: implications for protein composition and cell fate. Mol Cell 2002; 10: 443-55.
8. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006; 354: 1489-96.
9. Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med 2009; 360: 1729-39.
10. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383: 707-10.
11. Mendioroz M, Fernandez-Cadenas I, Del Rio-Espinola A, Rovira A, Solé E, Fernandez-Figueras MT, et al. A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology 2010; 75: 2033-5.
12. Maeda S, Nakayama H, Isaka K, Aihara Y, Nemoto S. Familial unusual encephalopathy of Binswanger's type without hypertension. Folia Psychiatr Neurol Jpn 1976; 30: 165-77.
13. Nishimoto Y, Shibata M, Nihonmatsu M, Nozaki H, Shiga A, Shirata A. A novel mutation in the HTRA1 gene causes CARASIL without alopecia. Neurology 2011; 76: 1353-5.
14. Nozaki H, Nishizawa M, Onodera O. Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2014; 45: 3447-53.
15. Pantoni L. Cerebral small vessel disease: from pathogenesis to clinical characteristics to therapeutic challenges. Lancet Neurol 2010; 9: 689-701.
16. Revesz T, Holton JL, Lashley T, Plant G, Frangione B, Rostagno A, et al. Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol 2009; 118: 115-30.
17. Wang XL, Li CF, Guo HW, Cao BZ. A Novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. CNS Neurosc Ther 2012; 18: 867-9.
18. Wardlaw JM, Smith C, Dichgans M. Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging. Lancet Neurol 2013; 12: 483-97.
19. Zou Y, Zwolanek D, Izu Y, Ganhdy S, Schreiber G, Brockmann K, et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet 2014; 23: 2339-52.