Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados

Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female pres...

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Autores principales:	Miranda C.,Marcelo, Bustamante C.,M. Leonor, Herrera C.,Luisa
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2017
Materias:	Frontotemporal Dementia Motor Neuron Disease Parkinsonian Disorders
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700896
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spelling	oai:scielo:S0034-988720170007008962017-11-27Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociadosMiranda C.,MarceloBustamante C.,M. LeonorHerrera C.,Luisa Frontotemporal Dementia Motor Neuron Disease Parkinsonian Disorders Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.145 n.7 20172017-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700896es10.4067/s0034-98872017000700896
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Frontotemporal Dementia Motor Neuron Disease Parkinsonian Disorders
spellingShingle	Frontotemporal Dementia Motor Neuron Disease Parkinsonian Disorders Miranda C.,Marcelo Bustamante C.,M. Leonor Herrera C.,Luisa Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
description	Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
author	Miranda C.,Marcelo Bustamante C.,M. Leonor Herrera C.,Luisa
author_facet	Miranda C.,Marcelo Bustamante C.,M. Leonor Herrera C.,Luisa
author_sort	Miranda C.,Marcelo
title	Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
title_short	Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
title_full	Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
title_fullStr	Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
title_full_unstemmed	Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
title_sort	expansión anormal de hexanucleótido en gen c9orf72 en una familia con demencia frontotemporal y cuadros asociados
publisher	Sociedad Médica de Santiago
publishDate	2017
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700896
work_keys_str_mv	AT mirandacmarcelo expansionanormaldehexanucleotidoengenc9orf72enunafamiliacondemenciafrontotemporalycuadrosasociados AT bustamantecmleonor expansionanormaldehexanucleotidoengenc9orf72enunafamiliacondemenciafrontotemporalycuadrosasociados AT herreracluisa expansionanormaldehexanucleotidoengenc9orf72enunafamiliacondemenciafrontotemporalycuadrosasociados
_version_	1718436954747437056

Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados

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