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
Artigo
em Espanhol
| 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:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Expansão das Repetições de DNA
/
Demência Frontotemporal
/
Proteína C9orf72
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Clínica Las Condes/CL
/
Universidad de Chile/CL
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