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Ultrastructure of mitochondria and damage to small blood vessels in siblings with the same mutation in the NOTCH 3 and coexisting diseases.
Pol J Pathol
October 2021
Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland.
We performed ultrastructural studies of mitochondria and evaluated the appearance of small blood vessels of three middle-aged siblings affected by the same mutation in the NOTCH3 gene, causing CADASIL. CADASIL pathognomonic features include granular osmiophilic material (GOM), which we observed. GOMs were located in damaged and thickened basement membranes (BM) of capillaries and arterioles.
View Article and Find Full Text PDFSQSTM1 gene as a potential genetic modifier of CADASIL phenotype.
J Neurol
April 2021
CNC, Center for Neuroscience and Cell Biology, University of Coimbra, Largo Marques de Pombal, 3004-517, Coimbra, Portugal.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease and is caused by mutations in the NOTCH3 gene. Interestingly, CADASIL patients present a large phenotypic variability even harboring the same pathogenic variant. We describe two CADASIL siblings with a particularly aggressive clinical phenotype characterized by early-onset stroke, gait disturbances and/or dementia, severe emotional dysregulation, and dysexecutive syndrome together with a severe white matter burden on MRI.
View Article and Find Full Text PDFA case of co-occurrence of radiation-induced leukoencephalopathy and CADASIL.
Neurol Clin Pract
June 2020
Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
Inflammatory-like presentation of CADASIL: a diagnostic challenge.
BMC Neurol
August 2012
Department of Neurology, Strasbourg University Hospital, 1, Avenue Molière, 67000, Strasbourg, France.
Background: CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease.
View Article and Find Full Text PDFMitochondrial DNA sequence variation and mutation rate in patients with CADASIL.
Neurogenetics
July 2006
Department of Neurology, University of Oulu, Oulu, Finland.
Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA). We assume that the co-occurrence of the two mutations is not coincidental and that mutations in the NOTCH3 gene may predispose the mtDNA to mutations.
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