瑞典一家族中伴有C9ORF72基因扩增的额颞叶痴呆：临床及神经病理学特征
Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.
作者信息
Landqvist Waldö Maria, Gustafson Lars, Nilsson Karin, Traynor Bryan J, Renton Alan E, Englund Elisabet, Passant Ulla
机构信息
Section of Geriatric Psychiatry, Department of Clinical Sciences, Lund University Klinikgatan 22, Lund SE-221 85, Sweden.
出版信息
Am J Neurodegener Dis. 2013 Nov 29;2(4):276-86. eCollection 2013.
Abstract
BACKGROUND
In 2011 the C9ORF72 repeat expansion was identified as the most frequent genetic mutation underlying FTD and ALS. The main aim of this study was to investigate clinical characteristics in a large C9ORF72-positive FTD family, and to compare these with the neuropathological findings.
METHODS
The clinical records of 12 related FTD patients were thoroughly evaluated. The five neuropathologically examined cases were revised using additional TDP-43 immuno-stainings. Four cases were screened for the C9ORF72 expansion.
RESULTS
All 12 patients fulfilled the criteria for bvFTD. Restlessness and social neglect were often among the first reported symptoms. Psychotic symptoms were reported in 8 patients. Somatic complaints were seen in 7 cases. All the neuropathologically examined cases were TDP-43 positive.
CONCLUSIONS
The phenotype of this C9ORF72 hexanucleotide expansion carrier family was bvFTD. The clinical symptom profile was strikingly homogenous. Psychotic symptoms and somatic complaints were observed in most of the cases.
摘要
背景
2011年，C9ORF72重复序列扩增被确定为导致额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）的最常见基因突变。本研究的主要目的是调查一个大型C9ORF72阳性FTD家族的临床特征，并将其与神经病理学发现进行比较。
方法
对12例相关FTD患者的临床记录进行了全面评估。对5例经神经病理学检查的病例使用额外的TDP - 43免疫染色进行复查。对4例病例进行了C9ORF72扩增筛查。
结果
所有12例患者均符合行为变异型额颞叶痴呆（bvFTD）的标准。烦躁不安和社会忽视常常是最早报告的症状。8例患者报告有精神病症状。7例患者有躯体不适主诉。所有经神经病理学检查的病例均为TDP - 43阳性。
结论
这个C9ORF72六核苷酸扩增携带者家族的表型为bvFTD。临床症状表现非常一致。大多数病例观察到有精神病症状和躯体不适主诉。
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