Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados / Abnormal expansion of C9orf72 gene in familial frontotemporal dementia
Rev. méd. Chile
;
145(7): 896-900, jul. 2017. graf
Artículo
en Español
| LILACS
| ID: biblio-1043144
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 neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Expansión de las Repeticiones de ADN
/
Demencia Frontotemporal
/
Proteína C9orf72
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Anciano
/
Femenino
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2017
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Clínica Las Condes/CL
/
Universidad de Chile/CL
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