Westphal Variant of Huntington's Disease
| Autor: | A. M. Zarante-Bahamón, O. Bernal-Pacheco, E. Espinosa-García, J. E. Cote-Orozco, J. L. Ramón-Gómez, L. Cabarcas-Castro |
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| Rok vydání: | 2017 |
| Předmět: |
Genetics
business.industry Parkinsonism Molecular evidence Disease medicine.disease 03 medical and health sciences Exon 0302 clinical medicine Huntingtin Gene Huntington's disease 030225 pediatrics mental disorders Pediatrics Perinatology and Child Health medicine Dementia Neurology (clinical) Family history business Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Journal of Pediatric Neurology. 17:028-030 |
| ISSN: | 1875-9041 1304-2580 |
| DOI: | 10.1055/s-0037-1608688 |
| Popis: | A Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia. |
| Databáze: | OpenAIRE |
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