Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia
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| Format: | Artículo científico |
| Langue: | en |
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Instituto Nacional de Salud
2015
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| _version_ | 1876490854888112128 |
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| author | Margarita Giraldo-Chica |
| author_facet | Margarita Giraldo-Chica |
| contents | Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia Margarita Giraldo-Chica Natalia Acosta-Baena Lorena Urbano Lina Velilla Francisco Lopera Nicolás Pineda Medicina dementia genetics Xanthomatosis schizophrenia Introduction: Cerebrotendinous xanthomatosis is an infrequent cause of dementia. It is an autosomal recessive disorder with clinical and molecular heterogeneity. Objective: To identify the presence of a possible mutation in a Colombian family with several affected siblings and clinical characteristics compatible with cerebrotendinous xanthomatosis associated to early dementia.Materials and methods: We studied a series of cases with longitudinal follow-up and genetic analysis.Results: These individuals had xanthomas, mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. CYP27A1 gene coding region sequencing revealed a novel mutation (c.1183_1184insT).Conclusion: The mutation found in this family is responsible for the described dementia features. Early identification of familial history with mental retardation, xanthomas and cognitive impairment might prevent the progression to this treatable type of dementia. Even though this mutation lies in the most frequently mutated codon of CYP27A1 gene, it has not been reported previously. 2015 artículo científico 0120-4157 https://www.redalyc.org/articulo.oa?id=84342791015 en http://www.redalyc.org/revista.oa?id=843 Biomédica application/pdf Instituto Nacional de Salud Biomédica (Colombia) Num.4 Vol.35 |
| format | Artículo científico |
| id | redalyc_84342791015 |
| institution | Redalyc |
| language | en |
| publishDate | 2015 |
| publisher | Instituto Nacional de Salud |
| spellingShingle | Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia Margarita Giraldo-Chica Medicina dementia genetics Xanthomatosis schizophrenia Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia Margarita Giraldo-Chica Natalia Acosta-Baena Lorena Urbano Lina Velilla Francisco Lopera Nicolás Pineda Medicina dementia genetics Xanthomatosis schizophrenia Introduction: Cerebrotendinous xanthomatosis is an infrequent cause of dementia. It is an autosomal recessive disorder with clinical and molecular heterogeneity. Objective: To identify the presence of a possible mutation in a Colombian family with several affected siblings and clinical characteristics compatible with cerebrotendinous xanthomatosis associated to early dementia.Materials and methods: We studied a series of cases with longitudinal follow-up and genetic analysis.Results: These individuals had xanthomas, mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. CYP27A1 gene coding region sequencing revealed a novel mutation (c.1183_1184insT).Conclusion: The mutation found in this family is responsible for the described dementia features. Early identification of familial history with mental retardation, xanthomas and cognitive impairment might prevent the progression to this treatable type of dementia. Even though this mutation lies in the most frequently mutated codon of CYP27A1 gene, it has not been reported previously. 2015 artículo científico 0120-4157 https://www.redalyc.org/articulo.oa?id=84342791015 en http://www.redalyc.org/revista.oa?id=843 Biomédica application/pdf Instituto Nacional de Salud Biomédica (Colombia) Num.4 Vol.35 |
| title | Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia |
| topic | Medicina dementia genetics Xanthomatosis schizophrenia |
| url | https://www.redalyc.org/articulo.oa?id=84342791015 |