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Takashi Ando, Yoji Goto, Kazuo Mano, Akihiko Ueda, Yukio Ando, Ikuko Mizuta, Toshiki Mizuno
A 37-year-old man was hospitalized for an evaluation of acute bilateral multiple subcortical infarcts. There were no specific signal abnormalities in the temporal pole or external capsule. An abdominal skin biopsy showed granular, electron-dense, osmiophilic material (GOM) in the smooth muscle cells on electron microscopy. A direct sequencing analysis of NOTCH3 revealed a heterozygous c.986G>A substitution in exon 6, resulting in a Cys329Tyr amino acid replacement. According to these findings, the patient was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencehalopathy (CADASIL)...
2016: Internal Medicine
Dominic A Carone
Cerebral autosomal dominant arteriopathy and subcortical ischemic leukoencephalopathy (CADASIL) is sometimes misdiagnosed as multiple sclerosis (MS). MS and CADASIL are not known to co-occur and brain magnetic resonance imagining (MRI) findings can help with differential diagnosis. Despite the availability of this information, a case report is presented of a 61-year-old woman who was misdiagnosed with MS at age 50, tested positive for CADASIL at age 56, described incorrectly as having both conditions simultaneously, and continued on MS disease-modifying medications, resulting in financial and physical hardship...
August 11, 2016: Applied Neuropsychology. Adult
William K Karlsson, Caspar G Sørensen, Christina Kruuse
Endothelial dysfunction (ED), in particular cerebral ED, may be an essential biomarker for ischemic cerebrovascular disease. However, there is no consensus on methods to best estimate cerebral ED. In this systematic review, we evaluate the use of L-arginine and N(G) -monomethyl-L-arginine (L-NMMA) for assessment of cerebral ED. A systematic search of PubMed, EMBASE and the Cochrane Library was done. We included studies investigating cerebrovascular response to L-arginine or L-NMMA in human subjects with vascular risk factors or ischemic cerebrovascular disease...
October 5, 2016: Clinical and Experimental Pharmacology & Physiology
Eric Jouvent, Edouard Duchesnay, Foued Hadj-Selem, François De Guio, Jean-François Mangin, Dominique Hervé, Marco Duering, Stefan Ropele, Reinhold Schmidt, Martin Dichgans, Hugues Chabriat
OBJECTIVE: To obtain simple models predicting disease evolution at 3 years for a given patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Based on data obtained in a prospective study of 236 patients, we built and validated models predicting, at the individual level, 3-year changes in Mini-Mental State Examination (MMSE), Mattis Dementia Rating Scale (MDRS), Trail Making Test version B (TMTB), and modified Rankin Scale (mRS)...
September 30, 2016: Neurology
Christof Haffner, Harry V Vinters
No abstract text is available yet for this article.
September 24, 2016: Neurology
Nabil Berhili, Amine Bout, Hayat Hlal, Chadya Aarab, Rachid Aalouane, Ismail Rammouz
Ekbom syndrome or delusional parasitosis is a rare disease characterized by the unwavering conviction of having cutaneous infestation of insects or parasites. This is a monothematic delusion of hallucinatory origin that typically affects older women. We report the case of three patients with delusional parasitosis in different clinical settings. The first patient suffered from isolated delusional parasitosis corresponding to the condition described by Karl Ekbom. The second case suffered from secondary delusional parasitosis, occurring in the setting of leukoencephalopathy (CADASIL)...
2016: Pan African Medical Journal
M L P Portegies, P J Koudstaal, M A Ikram
With 16.9 million people who suffered a first-ever stroke in 2010 worldwide, stroke is a very common vascular disease. Epidemiologic studies have played an essential role in assessing this burden and in detecting the risk factors for stroke. Primary prevention of these risk factors, primarily hypertension, smoking, diabetes, and atrial fibrillation, has reduced the incidence in high-income countries. However, stroke remains a major cause of death and disability, and therefore research should be continued. Subarachnoid hemorrhages are less prevalent than strokes but have an even higher risk of death...
2016: Handbook of Clinical Neurology
Rebecca L Brookes, Matthew J Hollocks, Rhea Y Y Tan, Robin G Morris, Hugh S Markus
BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic form of cerebral small vessel disease leading to early-onset stroke and dementia, with younger patients frequently showing subclinical deficits in cognition. At present, there are no targeted cognitive screening measures for this population. However, the Brief Memory and Executive Test (BMET) and the Montreal Cognitive Assessment (MoCA) have shown utility in detecting cognitive impairment in sporadic small vessel disease...
October 2016: Stroke; a Journal of Cerebral Circulation
Nicolae Sarbu, Robert Y Shih, Robert V Jones, Iren Horkayne-Szakaly, Laura Oleaga, James G Smirniotopoulos
White matter diseases include a wide spectrum of disorders that have in common impairment of normal myelination, either by secondary destruction of previously myelinated structures (demyelinating processes) or by primary abnormalities of myelin formation (dysmyelinating processes). The pathogenesis of many white matter diseases remains poorly understood. Demyelinating disorders are the object of this review and will be further divided into autoimmune, infectious, vascular, and toxic-metabolic processes. Autoimmune processes include multiple sclerosis and related diseases: tumefactive demyelinating lesions, Balo concentric sclerosis, Marburg and Schilder variants, neuromyelitis optica (Devic disease), acute disseminated encephalomyelitis, and acute hemorrhagic leukoencephalopathy (Hurst disease)...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Shuhan Zhu, Stephanie J Nahas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule...
October 2016: Current Pain and Headache Reports
Carmen Capone, Fabrice Dabertrand, Celine Baron-Menguy, Athena Chalaris, Lamia Ghezali, Valérie Domenga-Denier, Stefanie Schmidt, Clément Huneau, Stefan Rose-John, Mark T Nelson, Anne Joutel
Cerebral small vessel disease (SVD) is a leading cause of stroke and dementia. CADASIL, an inherited SVD, alters cerebral artery function, compromising blood flow to the working brain. TIMP3 (tissue inhibitor of metalloproteinase 3) accumulation in the vascular extracellular matrix in CADASIL is a key contributor to cerebrovascular dysfunction. However, the linkage between elevated TIMP3 and compromised cerebral blood flow (CBF) remains unknown. Here, we show that TIMP3 acts through inhibition of the metalloprotease ADAM17 and HB-EGF to regulate cerebral arterial tone and blood flow responses...
2016: ELife
Xiaoxia Hou, Hong Cheng, Qingwen Jin, Qi Niu, Feifei Shen, Juan Yao, Xinsheng Ding
OBJECTIVE: To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Clinical manifestations, neuroimaging, and genetic analysis were performed. RESULTS: The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Hussam Abou Al-Shaar, Najeeb Qadi, Mohamed H Al-Hamed, Brian F Meyer, Saeed Bohlega
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy caused by mutations in NOTCH3, very rarely homoallelic. OBJECTIVE: To describe the clinical, radiological, and neuropsychological features in an extended CADASIL family including members with either a homozygous or heterozygous NOTCH3 R1231C mutation. METHODS: The pedigree included 3 generations of a family with 13 affected individuals...
August 15, 2016: Journal of the Neurological Sciences
Julia Buczek, Beata Błażejewska-Hyżorek, Agnieszka Cudna, Małgorzata Lusawa, Eliza Lewandowska, Iwona Kurkowska-Jastrzębska, Anna Członkowska
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic...
July 2016: Neurologia i Neurochirurgia Polska
Mario Mascalchi, Leonardo Pantoni, Marco Giannelli, Raffaella Valenti, Andrea Bianchi, Giovanni Pracucci, Stefano Orsolini, Stefano Ciulli, Carlo Tessa, Anna Poggesi, Francesca Pescini, Domenico Inzitari, Stefano Diciotti
BACKGROUND AND PURPOSE: Diffusion tensor imaging (DTI) is sensitive to brain microstructural changes. The aims of this DTI study were to map voxelwise the spatial distribution of brain microstructural changes in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to investigate any correlation between DTI-derived indices and extension of T2 hyperintensity. METHODS: Eighteen patients with CADASIL and 18 age-, sex-, and education-level-matched healthy controls underwent magnetic resonance imaging at 3 T...
June 30, 2016: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Rhea Yan Ying Tan, Hugh Stephen Markus
BACKGROUND: Migraine is common in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) but its treatment responses are not well described, and its relationship to stroke risk unknown. Encephalopathy is a less common presentation; it has been suggested it is related to migraine. We characterised migraine patterns and treatment responses in CADASIL, and examined associations between migraine and both stroke risk and encephalopathy. METHODS: 300 symptomatic CADASIL patients were prospectively recruited from a national referral clinic over a nineteen year period, from 1996 to 2015...
2016: PloS One
Bhavesh Trikamji, Mariam Thomas, Gasser Hathout, Shrikant Mishra
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant angiopathy caused by a mutation in the notch 3 gene on chromosome 19. Clinically, patients may be asymptomatic or can present with recurrent ischemic episodes and strokes leading to dementia, depression, pseudobulbar palsy, and hemi- or quadraplegia. Additional manifestations that have been described include migraine (mostly with aura), psychiatric disturbances, and epileptic seizures...
April 2016: Annals of Indian Academy of Neurology
Maya Tojima, Satoshi Saito, Yumi Yamamoto, Toshiki Mizuno, Masafumi Ihara, Hidetoshi Fukuda
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. Recently, dysautoregulation has received increasing attention regarding the pathogenesis of stroke in CADASIL. Here, we report a CADASIL case with a novel Cys323Trp mutation in the NOTCH3 gene, which suggests a close relationship between hemodynamic factors and clustering of cerebral infarctions in CADASIL...
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Dan He, Daiqi Chen, Xuefei Li, Zheng Hu, Zhiyuan Yu, Wei Wang, Xiang Luo
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder caused by mutations in the NOTCH3 gene. Although CADASIL scale is a widely used tool to screen clinically suspected CADASIL patients, the differential effects of this scale in various populations remain unknown. METHODS: 92 CADASIL-like patients and 24 CADASIL patients were selected based on CADASIL scale and gene tests...
2016: Journal of Headache and Pain
Vincent Primo, Mark Graham, Alexander A Bigger-Allen, Joel M Chick, Carolina Ospina, Yakeel T Quiroz, Jan Manent, Steven P Gygi, Francisco Lopera, Patricia A D'Amore, Joseph F Arboleda-Velasquez
Mutations in NOTCH 3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a neurological disorder characterized by stroke, and vascular cognitive impairment and dementia. Loss of vascular smooth muscle cells (VSMC) and accumulation of granular osmiophilic material (GOM) deposits are hallmarks of CADASIL. There are no therapies for CADASIL and experimental endpoints to examine the preclinical efficacy of potential drugs are lacking. This study aims to use a mouse carrying the C455R mutation in Notch 3 to identify biomarkers associated with CADASIL...
August 1, 2016: Brain Research
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