A missense HTRA1 mutation expands carasil syndrome to the caucasian population

Neurology

Volumn 75, Issue 22, 2010, Pages 2033-2035

  Mendioroz, M ^a   Fernandez Cadenas I ^a   Del Rio Espinola A ^a   Rovira, A ^b   Sole E ^b   Fernandez Figueras M T ^a   Garcia Patos V ^b   Sastre Garriga, J ^b   Domingues Montanari, S ^a   Alvarez Sabin J ^a   Montaner, J ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEINASE OMI;

ADULT; ARTICLE; CARASIL SYNDROME; CASE REPORT; CAUCASIAN; COGNITIVE DEFECT; GENE SEQUENCE; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 78649997678     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181ff96ac     Document Type: Article

References (7)

1. Fukutake T, Hirayama K. Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 1995;35: 69-79.
2. Maeda S, Nemoto K, Suwan N, et al. Clinicopathological conference on a case of encephalomalacia (a question of Binswanger's disease). Saishin Igaku 1965;20:933-940.
3. Zheng DM, Xu FF, Gao Y, et al. A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical leukoencephalopathy (CARASIL): Clinical and radiological features. J Clin Neurosci 2009;16:847-849.
4. Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Neurology 2002;58:817-820.
5. Oide T, Nakayama H, Yanagawa S, et al. Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Neuropathology 2008;28:132-142.
6. Hara k, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med 2009;360:1729-1739.
7. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.