Diagnostic value of ultrastructural skin biopsy studies in CADASIL

Neurology

Volumn 68, Issue 17, 2007, Pages 1430-1432

  Malandrini, A ^a   Gaudiano, C ^a   Gambelli, S ^a   Berti, G ^a   Serni, G ^a   Bianchi, S ^a   Federico, A ^a   Dotti, M T ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH3 RECEPTOR;

ADULT; AGED; ARTICLE; CADASIL; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE MARKER; FEMALE; GENE MUTATION; GRANULAR OSMIOPHILIC MATERIAL; HUMAN; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SKIN BIOPSY;

ADULT; AGED; ARTERIOLES; BIOPSY; BRAIN; CADASIL; COLORING AGENTS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; ORGAN SPECIFICITY; RECEPTORS, NOTCH; SENSITIVITY AND SPECIFICITY; SKIN; TUNICA MEDIA;

EID: 34247517702     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000264018.46335.c8     Document Type: Article

References (7)

1. Ruchoux M-M, Guerouaou D, Vandenhaute B, et al. Systemic vascular smooth muscle cell in cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 1995;89:500-512.
2. Schultz A, Santoianni R, Hewan-Lowe K, et al. Vasculopathic changes of CADASIL can be focal in skin biopsies. Ultrastruct Pathol 1999;23:241-247.
3. Brulin P, Godfraind C, Leteurtre E, Ruchoux MM. Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathol 2002;104:241-248.
4. Markus HS, Martin RJ, Simpson MA, et al. Diagnostic strategies in CADASIL. Neurology 2002;59:1134-1138.
5. Ratzinger G, Ransmayr G, Romani N, Zelger B. CADASIL: an unusual manifestation with prominent cutaneous involvement. Br J Dermatol 2005;152:346-349.
6. Joutel A, Andreux F, Gaulis S, et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 2000;105:597-605.
7. Ishiko A, Shimizu A, Nagata E, Takahashi K, Tabira T, Suzuki N. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. Acta Neuropathol 2006;112:333-339.