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 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.

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Main Authors: Miranda C.,Marcelo, Bustamante C.,M. Leonor, Herrera C.,Luisa
Format: Digital revista
Language:Spanish / Castilian
Published: Sociedad Médica de Santiago 2017
Online Access: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
collection OJS
country Chile
countrycode CL
component Revista
access En linea
databasecode rev-scielo-cl
tag revista
region America del Sur
libraryname SciELO
language Spanish / Castilian
format Digital
author Miranda C.,Marcelo
Bustamante C.,M. Leonor
Herrera C.,Luisa
spellingShingle 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
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
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.
publisher Sociedad Médica de Santiago
publishDate 2017
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700896
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AT bustamantecmleonor expansionanormaldehexanucleotidoengenc9orf72enunafamiliacondemenciafrontotemporalycuadrosasociados
AT herreracluisa expansionanormaldehexanucleotidoengenc9orf72enunafamiliacondemenciafrontotemporalycuadrosasociados
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