Westphal Variant of Huntington's Disease

J. E. Cote-Orozco; L. Cabarcas-Castro; J. L. Ramón-Gómez; A. M. Zarante-Bahamón; O. Bernal-Pacheco; E. Espinosa-García

doi:10.1055/s-0037-1608688

Westphal Variant of Huntington's Disease

J. E. Cote-Orozco
, L. Cabarcas-Castro
, J. L. Ramón-Gómez
, A. M. Zarante-Bahamón
, O. Bernal-Pacheco
, E. Espinosa-García

Universidad Militar Nueva Granada
Instituto de Ortopedia Infantil Roosevelt
Hospital Militar Central. Sante Fe

Producción: Contribución a una revista › Artículo › revisión exhaustiva

2 Citas (Scopus)

Resumen

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.

Idioma original	Inglés
Páginas (desde-hasta)	28-30
Número de páginas	3
Publicación	Journal of Pediatric Neurology
Volumen	17
N.º	1
DOI	https://doi.org/10.1055/s-0037-1608688
Estado	Publicada - 30 ene. 2019
Publicado de forma externa	Sí

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title = "Westphal Variant of Huntington's Disease",

abstract = "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.",

keywords = "CAG repeat expansion, HTT gene, juvenile Huntington's disease",

author = "Cote-Orozco, \{J. E.\} and L. Cabarcas-Castro and Ram{\'o}n-G{\'o}mez, \{J. L.\} and Zarante-Baham{\'o}n, \{A. M.\} and O. Bernal-Pacheco and E. Espinosa-Garc{\'i}a",

note = "Publisher Copyright: Copyright {\textcopyright} 2019 by Georg Thieme Verlag KG, Stuttgart New York.",

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AU - Cote-Orozco, J. E.

AU - Cabarcas-Castro, L.

AU - Ramón-Gómez, J. L.

AU - Zarante-Bahamón, A. M.

AU - Bernal-Pacheco, O.

AU - Espinosa-García, E.

PY - 2019/1/30

Y1 - 2019/1/30

N2 - 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.

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.

KW - CAG repeat expansion

KW - HTT gene

KW - juvenile Huntington's disease

UR - https://www.scopus.com/pages/publications/85034049585

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DO - 10.1055/s-0037-1608688

M3 - Article

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VL - 17

SP - 28

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JO - Journal of Pediatric Neurology

JF - Journal of Pediatric Neurology

IS - 1

ER -

Westphal Variant of Huntington's Disease

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