Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

American journal of neurodegenerative disease Pub Date : 2013-11-29 eCollection Date: 2013-01-01

Maria Landqvist Waldö, Lars Gustafson, Karin Nilsson, Bryan J Traynor, Alan E Renton, Elisabet Englund, Ulla Passant

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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.

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瑞典家庭中C9ORF72扩增的额颞叶痴呆:临床和神经病理特征

背景:2011年，C9ORF72重复扩增被确定为FTD和ALS最常见的基因突变。本研究的主要目的是探讨一个c9orf72阳性FTD大家族的临床特征，并将其与神经病理结果进行比较。方法:对12例相关FTD患者的临床资料进行全面分析。5例神经病理学检查病例使用额外的TDP-43免疫染色进行修订。筛选4例C9ORF72扩增。结果:12例患者均符合bvFTD的诊断标准。烦躁不安和社会忽视通常是最早报告的症状。8例患者出现精神症状。7例出现躯体主诉。所有神经病理学检查病例均为TDP-43阳性。结论:C9ORF72六核苷酸扩增载体家族表型为bvFTD。临床症状特征明显相同。大多数病例均有精神症状和躯体主诉。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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American journal of neurodegenerative disease

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