Incipient CADASIL

Archives of Neurology
Saskia A J Lesnik ObersteinJoost Haan

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Knowledge of disease expression in young adult NOTCH3 mutation carriers (MCs) is limited. To characterize clinical, neuropsychological, and radiological status in NOTCH3 MCs younger than 35 years. Clinical characterization and blinded survey comparing MCs with non-MCs. Referral center. Individuals younger than 35 years who were at a 50% risk of a NOTCH3 mutation, from our CADASIL database. Thirteen individuals, from 8 families, met the criteria. Comprehensive clinical, genetic, neuropsychological, and radiological investigations. Magnetic resonance images were scored according to a standardized white matter hyperintensities rating scale. Six individuals, from 5 families, were MCs. Clinical symptoms consisted of migraine (with aura), stroke, and stroke-like episodes. We did not find evidence for psychiatric disturbances, functional disability, or cognitive dysfunction, compared with non-MCs. Radiologically, a characteristic magnetic resonance imaging lesion pattern emerged for all MCs. This comprised white matter hyperintensities in the anterior temporal lobes, the frontal lobes, and the...Continue Reading

Citations

Mar 10, 2009·Journal of the Neurological Sciences·Koen Paemeleire
Mar 3, 2007·Journal of the Neurological Sciences·Martijn Tonk, Joost Haan
Apr 29, 2006·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·W Rein GustavsenA Schlosser
Apr 4, 2008·Acta Neurologica Scandinavica·R ValentiL Pantoni
Apr 19, 2006·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C Lampl, S Marecek
Sep 29, 2011·CNS Neuroscience & Therapeutics·Arezoo AssarehPerminder S Sachdev
Nov 18, 2004·Journal of the Neurological Sciences·R CurtainL R Griffiths
Aug 20, 2009·Cephalalgia : an International Journal of Headache·A H StamG M Terwindt
Sep 4, 2010·Cephalalgia : an International Journal of Headache·S MenonL R Griffiths
Nov 15, 2003·Current Opinion in Ophthalmology·Guruswami Arunagiri, Shanmugam Santhi
Nov 9, 2011·The Spanish Journal of Psychology·Francisco Javier Domínguez-SánchezMiguel Goñi-Imízcoz
Nov 16, 2016·Annals of Clinical and Translational Neurology·Julie W RuttenSaskia A J Lesnik Oberstein
Dec 2, 2021·Neurogenetics·Maria Rosário AlmeidaGustavo Santo
Nov 17, 2010·Pediatrics·Catalina ClevesMuhammad S Hussain

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