Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados
Author
dc.contributor.author
Miranda C., Marcelo
Author
dc.contributor.author
Bustamante Calderón, María Leonor
Author
dc.contributor.author
Herrera Cisterna, Luisa
Admission date
dc.date.accessioned
2018-06-13T20:20:29Z
Available date
dc.date.available
2018-06-13T20:20:29Z
Publication date
dc.date.issued
2017
Cita de ítem
dc.identifier.citation
Rev Med Chile 2017; 145: 896-900
es_ES
Identifier
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0717-6163
Identifier
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https://repositorio.uchile.cl/handle/2250/148854
Abstract
dc.description.abstract
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 neurodegenerative disorders improves diagnosis
and opens expectatives for future treatments of these disabling conditions.