Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F22%3A00009397" target="_blank" >RIV/00023884:_____/22:00009397 - isvavai.cz</a>

Result on the web

<a href="https://pubmed.ncbi.nlm.nih.gov/35024983/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/35024983/</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance

Original language description

A woman in her mid-50 s was referred for slowly progressive impairment in visual acuity, spatial disorientation, and gait instability and complained of left-hand clumsiness. She had no history of headaches or migraines and was being treated for arterial hypertension.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

30224 - Radiology, nuclear medicine and medical imaging

Project

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Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů