脑淀粉样血管病
医学
神经学
痴呆
儿科
病理
精神科
疾病
作者
J.J. Zarranz,Manuel Fernández-Martı́nez,Olga Rodriguez,Beatriz Mateos,Serge Iglesias,Jean‐Claude Baron
标识
DOI:10.1016/j.jns.2016.02.029
摘要
The article "Iowa-type hereditary CAA in a Polish family", published in the journal this year [1], reported the fourth family with the Iowa mutation. The first two were reported from France (a family of Spanish descent [2] whose genetic diagnosis was reported subsequently [3]) and Iowa (German descent) [4] in the early 2000's, and a third from Ireland (Irish descent) in 2014 [5]. We report here another family from Bilbao, Spain (Basque descent) because i) this further family supports the idea that this mutation is not that rare, and ii) the young asymptomatic mutation carrier had normal brain imaging, indicating the apparently pathognomonic occipital calcifications may be present only at later stages of the condition.
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