TY - JOUR AU - Cote-Orozco, J. E.; Cabarcas-Castro, L.; Ramón-Gómez, J. L.; Zarante-Bahamón, A. M.; Bernal-Pacheco, O.; Espinosa-García, E. TI - Westphal Variant of Huntington's Disease SN - 1304-2580 SN - 1875-9041 PY - 2019 JF - Journal of Pediatric Neurology LA - EN VL - 17 IS - 01 SP - 028 EP - 030 ET - 2017/11/13 DA - 2019/01/30 KW - juvenile Huntington's disease KW - HTT gene KW - CAG repeat expansion AB - 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0037-1608688 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0037-1608688 ER -