About: Clinical spectrum in CADASIL family with a new mutation

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We report a comprehensive evaluation of several individuals in the CADASIL family whose member was identified to have the new mutation of NOTCH3 receptor on exon 6 (p. G296C). We performed genetic testing, clinical and neuropsychological examination, cerebral MRI, Doppler sonography of cerebral arteries, fundoscopic examination and fluorescent angiography in six family members to determine the corresponding clinical spectrum associated with the new mutation. Results and Conclusion. The CADASIL mutation was detected in four individuals. Three of them were symptomatic, two having a history of stroke and one suffering from migraine. Although individuals had heterogeneous findings, the common feature included vascular changes that were present on cerebral and/or retinal arteries in all the mutation carriers even in one subject without clinical manifestation of the disease. The CADASIL mutation was detected in four individuals. Three of them were symptomatic, two having a history of stroke and one suffering from migraine. Although individuals had heterogeneous findings, the common feature included vascular changes that were present on cerebral and/or retinal arteries in all the mutation carriers even in one subject without clinical manifestation of the disease. We report a comprehensive evaluation of several individuals in the CADASIL family whose member was identified to have the new mutation of NOTCH3 receptor on exon 6 (p. G296C). We performed genetic testing, clinical and neuropsychological examination, cerebral MRI, Doppler sonography of cerebral arteries, fundoscopic examination and fluorescent angiography in six family members to determine the corresponding clinical spectrum associated with the new mutation. Results and Conclusion. The CADASIL mutation was detected in four individuals. Three of them were symptomatic, two having a history of stroke and one suffering from migraine. Although individuals had heterogeneous findings, the common feature included vascular changes that were present on cerebral and/or retinal arteries in all the mutation carriers even in one subject without clinical manifestation of the disease. The CADASIL mutation was detected in four individuals. Three of them were symptomatic, two having a history of stroke and one suffering from migraine. Although individuals had heterogeneous findings, the common feature included vascular changes that were present on cerebral and/or retinal arteries in all the mutation carriers even in one subject without clinical manifestation of the disease. (en)
Title	Clinical spectrum in CADASIL family with a new mutation Clinical spectrum in CADASIL family with a new mutation (en)
skos:prefLabel	Clinical spectrum in CADASIL family with a new mutation Clinical spectrum in CADASIL family with a new mutation (en)
skos:notation	RIV/00064173:_____/13:#0000307!RIV14-MZ0-00064173
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NT13183)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Peisker, Tomáš Cihelková, Ilona Musil, Libor Bartoš, Aleš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Královské Vinohrady
http://linked.open...dnocenehoVysledku	65704
http://linked.open...ai/riv/idVysledku	RIV/00064173:_____/13:#0000307
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Doppler; fluorescent angiography; migraine; stroke; NOTCH3; CADASIL (en)
http://linked.open.../riv/klicoveSlovo	Doppler stroke migraine CADASIL NOTCH3 fluorescent angiography
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[4817DBF05F92]
http://linked.open...i/riv/nazevZdroje	Biomedical Papers
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Brief psychometric instruments for early diagnosis of Alzheimer's disease in senior population
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	157
http://linked.open...iv/tvurceVysledku	Bartoš, Aleš Musil, Libor Peisker, Tomáš Cihelková, Ilona
http://linked.open...ain/vavai/riv/wos	000329091500018
issn	1213-8118
number of pages	4 (xsd:int)
http://bibframe.org/vocab/doi	10.5507/bp.2013.055

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