Capozzo Rosa, Sassi Celeste, Hammer Monia B, Arcuti Simona, Zecca Chiara, Barulli Maria R, Tortelli Rosanna, Gibbs J Raphael, Crews Cynthia, Seripa Davide, Carnicella Francesco, Dell'Aquila Claudia, Rossi Marco, Tamma Filippo, Valluzzi Francesco, Brancasi Bruno, Panza Francesco, Singleton Andrew B, Logroscino Giancarlo
Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.
Alzheimers Dement. 2017 Aug;13(8):858-869. doi: 10.1016/j.jalz.2017.01.011. Epub 2017 Mar 3.
We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes.
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.
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.
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.
我们研究了家族性和散发性额颞叶痴呆（FTD）之间的临床差异，并筛查已知FTD基因中的突变。
在两年内，我们在意大利南部普利亚地区诊断出8个家族中的22名患病个体和43例散发性FTD病例。对常见致病FTD基因（GRN、MAPT、VCP和TARDBP）中的突变以及C9ORF72扩增进行了筛查。
FTD的行为变异型是最常见的临床亚型（分别在家族性和散发性病例中占50%和69%）。社交行为障碍/脱抑制、洞察力丧失和固执是发病时最常见的临床特征。在A家族的GRN基因中发现了一个新突变。
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基因中的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。
