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CADASIL RESEARCH:
VASCULAR EFFECTS OF CADASIL

Background Information: Vascular Effects of CADASIL
Article Summaries
Links to Abstract and Articles: Vasculature
Links to Abstract and Articles: Skin Biopsy

Backgrond Information: Vascular Effects of CADASIL

Article Summaries

Dichgans M et al.
Angiographic complications in CADASIL.
Lancet. 1997;349:776-777.   Abstract
The authors identified 16 CADASIL patients who had undergone cerebral angiography. In 11 of the patients cerebral angiography induced neurological complications, which were transient in six, reversible in three, and permanent in two patients. Symptoms included dysphasia, visual impairment/cortical blindness, confusion, motor and sensory deficits, epileptic seizures, headache, vomiting, and vertigo. In two patients, angiography led to cerebral infarction. The findings indicate that CADASIL patients are at higher risk for angiographic complications (69%) than expected (0·5–5·6%). The authors speculate that structural vessel abnormalities in CADASIL may make patients vulnerable to a toxic effect caused by contrast agents and conclude that cerebral angiography is contraindicated in CADASIL patients.

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Links to Abstract and Articles: Vasculature
Choi EJ, Choi CG, Kim JS. Large cerebral artery involvement in CADASIL. Neurology. 2005 Oct 25;65(8):1322-4.
Abstract

Lacombe P, Oligo C, Domenga V, Tournier-Lasserve E, Joutel A. Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke. 2005 May;36(5):1053-8.
Abstract

Singhal S, Markus HS. Cerebrovascular reactivity and dynamic autoregulation in nondemented patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). J Neurol. 2005 Feb;252(2):163-7.
Abstract

Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, Kalimo H. Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Pathol. 2004 Oct;14(4):358-64.
Abstract

Dubroca C, Lacombe P, Domenga V, Maciazek J, Le
vy B, Tournier-Lasserve E, Joutel A, Henrion D. Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. Stroke. 2005 Jan;36(1):113-7.
Abstract   Free Full Text Article

Rafalowska J, Dziewulska D, Fidzianska A. CADASIL: what component of the vessel wall is really a target for Notch 3 gene mutations? Neurol Res. 2004 Jul;26(5):558-62.
Abstract

Rafalowska J, Fidzianska A, Dziewulska D, Podlecka A, Szpak GM, Kwiecinski H. CADASIL or CADVaSIL? Neuropathology. 2004 Mar;24(1):16-20.
Abstract

Hussain MB, Singhal S, Markus HS, Singer DR. Abnormal vasoconstrictor responses to angiotensin II and noradrenaline in isolated small arteries from patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 2004 Apr;35(4):853-8.
Abstract

Shawber CJ, Kitajewski J. Notch function in the vasculature: insights from zebrafish, mouse and man. Bioessays. 2004 Mar;26(3):225-34.
Abstract

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Brulin-Fardoux P, Godfrain C, Maurage CA, De Reuck J, Hauw JJ, Kaltner H, Bovin NV, Gabius HJ, Ruchoux MM, Kiss R, Camby I. Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin-specific antibodies. Neuropathol Appl Neurobiol. 2003 Aug;29(4):400-10.
Abstract


Villa N, Walker L, Lindsell CE, Gasson J, Iruela-Arispe ML, Weinmaster G. Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels. Mech Dev. 2001 Oct;108(1-2):161-4.
Abstract

Lesnik Oberstein SA, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, Ferrari MD, Breuning MH, Haan J; Dutch CADASIL Research Group. Cerebral microbleeds in CADASIL. Neurology. 2001 Sep 25;57(6):1066-70.
Abstract

Caronti B, Calandriello L, Francia A, Scorretti L, Manfredi M, Sansolini T, Pennisi EM, Calderaro C, Palladini G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis. Acta Neurol Scand. 1998 Oct;98(4):259-67.
Abstract

Dichgans M, Petersen D. Angiographic complications in CADASIL. Lancet. 1997 Mar 15;349(9054):776-7.
Abstract

Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl). 1995;89(6):500-12.
Abstract


Arima K, Yanagawa S, Ito N, Ikeda S. Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). Neuropathology. 2003 Dec;23(4):327-34.
Abstract


Santa Y, Uyama E, Chui de H, Arima M, Kotorii S, Takahashi K, Tabira T. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. J Neurol Sci. 2003 Aug 15;212(1-2):79-84.
Abstract


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Links to Abstract and Articles: Skin Biopsy

Ishiko A, Shimizu A, Nagata E, Ohta K, Tanaka M. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy. Am J Dermatopathol. 2005 Apr;27(2):131-4.
Abstract


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 (Berl). 2002 Sep;104(3):241-8.
Abstract


Smith BW, Henneberry J, Connolly T. Skin biopsy findings in CADASIL. Neurology. 2002 Sep 24;59(6):961.
Abstract


Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, Domenga V, Cecillon M, Vahedi K, Ducros A, Cave-Riant F, Bousser MG, Tournier-Lasserve E. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet. 2001 Dec 15;358(9298):2049-51.
Abstract


Rumbaugh JA, LaDuca JR, Shan Y, Miller CA. CADASIL: the dermatologic diagnosis of a neurologic disease. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Am Acad Dermatol. 2000 Dec;43(6):1128-30.
Abstract


Walsh JS, Perniciaro C, Meschia JF. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): diagnostic skin biopsy changes determined by electron microscopy. J Am Acad Dermatol. 2000 Dec;43(6):1125-7.
Abstract


Mayer M, Straube A, Bruening R, Uttner I, Pongratz D, Gasser T, Dichgans M, Muller-Hocker J. Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL. J Neurol. 1999 Jul;246(7):526-32.
Abstract


Schultz A, Santoianni R, Hewan-Lowe K. Vasculopathic changes of CADASIL can be focal in skin biopsies. Ultrastruct Pathol. 1999 Jul-Aug;23(4):241-7.
Abstract


Ruchoux MM, Maurage CA. Endothelial changes in muscle and skin biopsies in patients with CADASIL. Neuropathol Appl Neurobiol. 1998 Feb;24(1):60-5.
Abstract


Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, Schwendemann G. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand. 1997 Jun;95(6):351-7.
Abstract


Furby A, Vahedi K, Force M, Larrouy S, Ruchoux MM, Joutel A, Tournier-Lasserve E. Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening. J Neurol. 1998 Nov;245(11):734-40.
Abstract


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