Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family
| العنوان: | Frontotemporal dementia linked to chromosome 3 (FTD-3) - current concepts and the detection of a previously unknown branch of the Danish FTD-3 family |
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| المؤلفون: | Jørgen E. Nielsen, Kirsten Svenstrup, Adrian M. Isaacs, Suzanne Granhøj Lindquist, Hans Brændgaard |
| المصدر: | European Journal of Neurology. 15:667-670 |
| بيانات النشر: | Wiley, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | medicine.medical_specialty, Truncating mutation, business.industry, Disease, medicine.disease, language.human_language, Danish, Neurological assessment, Neurology, Chromosome 3, mental disorders, Mutation (genetic algorithm), medicine, language, Dementia, Neurology (clinical), Psychiatry, business, Frontotemporal dementia |
| الوصف: | Background: Among patients with onset of dementia below the age of 65 years, frontotemporal dementia (FTD) is the second most prevalent cause, secondary only to Alzheimer's disease. Recent advances in understanding the heterogeneous genetic background for different clinical and neuropathological entities of FTD have involved identification of several new causative genes. Methods and results: We report the finding of a truncating mutation in the CHMP2B gene (c.532-1G > C) in a patient with early onset dementia. The patient was previously not known to be related to the single Danish pedigree known to have this specific mutation. Subsequently he has turned out to represent a new branch of the family with several affected individuals. Discussion: Our findings highlight the need for awareness of the CHMP2B mutation and associated clinical phenotype for neurological assessment in Denmark. Further, we discuss recent advances and current concepts in the understanding of CHMP2B-related dementia. |
| تدمد: | 1351-5101 |
| DOI: | 10.1111/j.1468-1331.2008.02144.x |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::9e7058ed04f3b849a3016fac5a7bad7a https://doi.org/10.1111/j.1468-1331.2008.02144.x |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi...........9e7058ed04f3b849a3016fac5a7bad7a |
| قاعدة البيانات: | OpenAIRE |
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