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

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English
Pages (from-to)	28-30
Number of pages	3
Journal	Journal of Pediatric Neurology
Volume	17
Issue number	1
DOIs	https://doi.org/10.1055/s-0037-1608688
State	Published - 2019
Externally published	Yes

Keywords

CAG repeat expansion
HTT gene
juvenile Huntington's disease

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10.1055/s-0037-1608688

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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.",

year = "2019",

doi = "10.1055/s-0037-1608688",

language = "English",

volume = "17",

pages = "28--30",

journal = "Journal of Pediatric Neurology",

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publisher = "Georg Thieme Verlag",

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T1 - Westphal Variant of Huntington's Disease

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

Y1 - 2019

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

U2 - 10.1055/s-0037-1608688

DO - 10.1055/s-0037-1608688

M3 - Article

AN - SCOPUS:85034049585

SN - 1304-2580

VL - 17

SP - 28

EP - 30

JO - Journal of Pediatric Neurology

JF - Journal of Pediatric Neurology

IS - 1

ER -

Westphal Variant of Huntington's Disease

Abstract

Keywords

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