The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

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• 作者：Anastasia Vishnevetsky^a ; ^b ; ^c ; ^{staseyvi@gmail.com} ; Miguel Inca-Martinez^a ; ^{miguel.inca.m@incngen.org.pe} ; Karina Milla-Neyra^a ; ^{karina.milla.n@incngen.org.pe} ; Danny Moises Barrientos-Iman^d ; ^{dannymoisesb@gmail.com} ; Ivan Cornejo-Herrera^a ; ^{ivanco_10@hotmail.com} ; Carlos Cosentino^e ; ^{ccosentinoe@gmail.com} ; Mario Cornejo-Olivas^a ; ^{mario.cornejo.o@incngen.org.pe}
• 关键词：CADASIL ; Stroke ; Olfactory dysfunction ; Olfaction ; MRI ; NOTCH3 ; Peru ; South America
• 刊名：eNeurologicalSci
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：5
• 期：Complete
• 页码：15-19
• 全文大小：610 K
• 卷排序：5

文摘

The first reported family with CADASIL in Peru harbors a R133C mutation in the Notch3 gene. Two members of the same family with CADASIL presented with complaints of symptomatic olfactory dysfunction. This case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL.