Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy
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DOI：
10.1016/j.jalz.2017.01.011
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发表时间：
2017-08-01
影响因子：
14
通讯作者：
Logroscino, Giancarlo
中科院分区：
文献类型：
--
作者：
Capozzo, Rosa;Sassi, Celeste;Logroscino, Giancarlo
简介：我们调查了家族性和散发性额颞叶痴呆（FTD）之间的临床差异，筛选已知的FTD genes.Methods突变：我们诊断22个受影响的个人属于8个家庭和43个散发病例FTD在普利亚，南部意大利，在2年。结果：行为变异型FTD是最常见的临床亚型（家族性和散发性病例分别为50%和69%）。社交行为障碍/抑制解除、自知力丧失和易受影响是发作时观察到的最常见临床特征。在家族A的GRN中发现了一种新的突变。讨论：散发性FTD的疾病发作更常见的特征是行为症状与冷漠和个人卫生丧失的聚集。常见致病FTD基因突变不是意大利南部人群中家族性和散发性FTD的主要原因。(C)2017由Elsevier Inc.出版代表老年痴呆症协会
Introduction: We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes.Methods: We diagnosed 22 affected individuals belonging to eight families and 43 sporadic cases with FTD in Apulia, Southern Italy, in 2 years. Mutations in common causative FTD genes (GRN, MAPT, VCP, and TARDBP) and C9ORF72 expansions were screened.Results: Behavioral variant of FTD was the most common clinical subtype (50% and 69% in familial and sporadic cases, respectively). Social conduct impairment/disinhibition, loss of insight, and inflexibility were the most frequent clinical features observed at onset. One new mutation was identified in GRN in family A.Discussion: Disease onset in sporadic FTD was more frequently characterized by a clustering of behavioral symptoms with apathy and loss of personal hygiene. Mutations in common causative FTD genes are not a major cause of familial and sporadic FTD in the Southern Italian population. (C) 2017 Published by Elsevier Inc. on behalf of the Alzheimer's Association.