Results 221 to 230 of about 9,876 (239)

CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?

Neurology, 2008
Mutations in the Notch3 gene in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) usually involve cysteine residues.1 We report a cysteine-sparing mutation (A1020P) in association with a CADASIL-compatible phenotype in two German families. ### Case histories.
Sibylle Strenge, Dietmar Rudolf Thal, Wolfram Heinritz, R Scheid, D.Y. von Cramon, Ralf Schober, U. G Froster, Thomas Leyhe   +7 more
openaire   +5 more sources

The pathogenesis of CADASIL: an update

Journal of the Neurological Sciences, 2004
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) appears to be the most common form of hereditary stroke disorder. CADASIL is associated with arterial smooth muscle degeneration linked to mutations in the Notch3 gene, whose product is a transmembrane receptor that functions in cell-cell communication.
H Kalimo, M Viitanen, Raj N. Kalaria, Martin Dichgans, T. Tabira   +4 more
openaire   +2 more sources

Clinical Features of CADASIL

Annals of the New York Academy of Sciences, 2002
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks, strokes, and vascular dementia. Various mutations in the Notch3 gene cause the disease, whereas the mechanism of how they cause the disorder remains unknown ...
Mikio Shoji, Yasuhiro Manabe, Isao Nagano, Etsuro Matsubara, Koji Abe, Tetsuro Murakami   +5 more
openaire   +3 more sources

Peripheral neuropathy in CADASIL

Journal of Neurology, 2005
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse.To assess peripheral neuropathy in patients with
SICURELLI F., DOTTI M. T., DE STEFANO N., MALANDRINI A., MONDELLI M., BIANCHI S., FEDERICO A.   +6 more
openaire   +5 more sources

CADASIL

2018
Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3.
openaire   +2 more sources

CADASIL and ALS: A link?

Amyotrophic Lateral Sclerosis, 2009
We report the case of a 66-year-old female who presented with dysarthria and dysphonia. Brain MRI abnormalities showed confluent white matter lesions and subcortical lacunar infarcts, suggesting cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), confirmed by the presence of a heterozygous mutation in ...
Patrick Vourc'h, Julien Praline, Nadège Limousin, Philippe Corcia, Maud Pallix, Anne-Marie Guennoc, Christian R. Andres, Séverine Debiais   +7 more
openaire   +3 more sources

Cerebral microbleeds in CADASIL

Neurology, 2001
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts and dementia. Intracerebral hemorrhage (ICH) has been described sporadically in patients with CADASIL, suggesting that the affected arteries in CADASIL are not bleed-prone. However, the
Egbert Bakker, Joost Haan, R. van den Boom, M. D. Ferrari, Martijn H. Breuning, H. C. van Houwelingen, S. A. J. Lesnik Oberstein, M.A. van Buchem, Ellen Vollebregt   +8 more
openaire   +3 more sources

Primary angioplasty in CADASIL

Catheterization and Cardiovascular Interventions, 2003
AbstractWe report an acute coronary event in a young patient suffering from cerebral autosomal dominant arteriopathy with sub‐cortical infarcts and leucoencephalopathy (CADASIL) successfully treated by primary angioplasty and direct stenting. Coronary involvement and pathophysiology of this genetic disorder is discussed.
Marie Claude Morice, Cherukupalli Raghu, Christophe Loubeyre, Edouard Obadia   +3 more
openaire   +3 more sources

Visual System Involvement in CADASIL

Journal of Stroke and Cerebrovascular Diseases, 2013
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriolar small-vessel disease caused by Notch3 mutations. A detailed definition of the neuro-ophthalmologic spectrum of CADASIL might provide new insights in the pathophysiology of small-vessel diseases.
PRETEGIANI, ELENA, ROSINI, FRANCESCA, DOTTI, MARIA, BIANCHI, SILVIA, FEDERICO, ANTONIO, RUFA, ALESSANDRA   +5 more
openaire   +5 more sources

Neuromuscular Implications in CADASIL

Cerebrovascular Diseases, 2007
<i>Objectives:</i> Recent studies indicate that <i>Notch3</i> gene mutations not only manifest as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but also in the peripheral nerves and skeletal muscles.
openaire   +2 more sources