Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals
Identifieur interne : 006317 ( Main/Exploration ); précédent : 006316; suivant : 006318Huntington's disease in venezuela: 7 years of follow‐up on symptomatic and asymptomatic individuals
Auteurs : Penney Jr. [États-Unis] ; Anne B. Young [États-Unis] ; Ira Shoulson ; Simon Starosta-Rubenstein ; S. Robert Snodgrass [États-Unis] ; Juan Sanchez-Ramos ; Maria Ramos-Arroyo [Espagne] ; Fidela Gomez [États-Unis] ; Graciela Penchaszadeh [États-Unis] ; Jose Alvir [États-Unis] ; Jesus Esteves [Venezuela] ; Iris Dequiroz [Venezuela] ; Nelson Marsol [Venezuela] ; Humberto Moreno [Venezuela] ; P. Michael Conneally [États-Unis] ; Ernesto Bonilla [Venezuela] ; Nancy S. Wexler [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 1990.
Descripteurs français
- Wicri :
- geographic : Venezuela.
English descriptors
- KwdEn :
- MESH :
- geographic : Venezuela.
- epidemiology : Huntington Disease.
- physiopathology : Huntington Disease.
- Adolescent, Adult, Child, Child, Preschool, Humans, Middle Aged, Risk.
Abstract
Persons symptomatic and at risk for Huntington's disease (HD) from a large extended family in the state of Zulia, Venezuela, have been followed prospectively for 7 years. Between 1981 and 1988, 593 people were examined, of whom 128 had symptomatic HD and 171 persons at risk had examination abnormalities that were insufficient to meet criteria for diagnosis. The remaining 294 had normal examinations. Abnormalities of saccadic eye movement and slowness of rapid alternating movements were the most common abnormalities found in at‐risk individuals. Thirty persons who did not meet criteria for diagnosis at their first examination have subsequently been diagnosed with symptomatic HD. Their average age at diagnosis was 33.5 ± 8.3 (SD) years. The likelihood of developing symptomatic HD within 3 years was 3% for those persons with normal first examinations, 23% for those with mildly abnormal first examinations, and 60% for those with highly abnormal first examinations. The rate of disease progression in early symptomatic cases were 1.4 ± 0.1 (SEM) points per year on the Shoulson‐Fahn functional capacity scale. Paternal or maternal inheritance did not appear to affect the rate of progression in this group of individuals. The data suggest that there is not a discrete age of onset but rather a prolonged period of time during which symptoms unfold.
Url:
DOI: 10.1002/mds.870050202
Affiliations:
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Young</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Neurology, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Shoulson, Ira" sort="Shoulson, Ira" uniqKey="Shoulson I" first="Ira" last="Shoulson">Ira Shoulson</name><affiliation><wicri:noCountry code="subField">Rochester</wicri:noCountry></affiliation></author><author><name sortKey="Starosta Ubenstein, Simon" sort="Starosta Ubenstein, Simon" uniqKey="Starosta Ubenstein S" first="Simon" last="Starosta-Rubenstein">Simon Starosta-Rubenstein</name><affiliation><wicri:noCountry code="subField">Caracas</wicri:noCountry></affiliation></author><author><name sortKey="Snodgrass, S Robert" sort="Snodgrass, S Robert" uniqKey="Snodgrass S" first="S. Robert" last="Snodgrass">S. Robert Snodgrass</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Departments Of Neurology and Pediatrics, University of Southern California, Los Angeles</wicri:cityArea></affiliation></author><author><name sortKey="Sanchez Amos, Juan" sort="Sanchez Amos, Juan" uniqKey="Sanchez Amos J" first="Juan" last="Sanchez-Ramos">Juan Sanchez-Ramos</name><affiliation><wicri:noCountry code="subField">Miami</wicri:noCountry></affiliation></author><author><name sortKey="Ramos Rroyo, Maria" sort="Ramos Rroyo, Maria" uniqKey="Ramos Rroyo M" first="Maria" last="Ramos-Arroyo">Maria Ramos-Arroyo</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department Of Genetics, Hospital Virgen del Camino, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Gomez, Fidela" sort="Gomez, Fidela" uniqKey="Gomez F" first="Fidela" last="Gomez">Fidela Gomez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Hialeah Hospital, Hialeah</wicri:cityArea></affiliation></author><author><name sortKey="Penchaszadeh, Graciela" sort="Penchaszadeh, Graciela" uniqKey="Penchaszadeh G" first="Graciela" last="Penchaszadeh">Graciela Penchaszadeh</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Departments of Neurology and Psychiatry, Columbia University and the Hereditary Disease Foundation</wicri:cityArea></affiliation></author><author><name sortKey="Alvir, Jose" sort="Alvir, Jose" uniqKey="Alvir J" first="Jose" last="Alvir">Jose Alvir</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Long Island Jewish Medical Center, New Hyde Park</wicri:cityArea></affiliation></author><author><name sortKey="Esteves, Jesus" sort="Esteves, Jesus" uniqKey="Esteves J" first="Jesus" last="Esteves">Jesus Esteves</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Department of Biochemistry, University of Zulia, Maracaibo</wicri:regionArea><wicri:noRegion>Maracaibo</wicri:noRegion></affiliation></author><author><name sortKey="Dequiroz, Iris" sort="Dequiroz, Iris" uniqKey="Dequiroz I" first="Iris" last="Dequiroz">Iris Dequiroz</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Department of Biochemistry, University of Zulia, Maracaibo</wicri:regionArea><wicri:noRegion>Maracaibo</wicri:noRegion></affiliation></author><author><name sortKey="Marsol, Nelson" sort="Marsol, Nelson" uniqKey="Marsol N" first="Nelson" last="Marsol">Nelson Marsol</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Department of Biochemistry, University of Zulia, Maracaibo</wicri:regionArea><wicri:noRegion>Maracaibo</wicri:noRegion></affiliation></author><author><name sortKey="Moreno, Humberto" sort="Moreno, Humberto" uniqKey="Moreno H" first="Humberto" last="Moreno">Humberto Moreno</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Department of Genetics, University of Zulia, Maracaibo</wicri:regionArea><wicri:noRegion>Maracaibo</wicri:noRegion></affiliation></author><author><name sortKey="Conneally, P Michael" sort="Conneally, P Michael" uniqKey="Conneally P" first="P. Michael" last="Conneally">P. Michael Conneally</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medical Genetics, Indiana University Medical School, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Bonilla, Ernesto" sort="Bonilla, Ernesto" uniqKey="Bonilla E" first="Ernesto" last="Bonilla">Ernesto Bonilla</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Department of Biochemistry, University of Zulia, Maracaibo</wicri:regionArea><wicri:noRegion>Maracaibo</wicri:noRegion></affiliation></author><author><name sortKey="Wexler, Nancy S" sort="Wexler, Nancy S" uniqKey="Wexler N" first="Nancy S." last="Wexler">Nancy S. Wexler</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Departments of Neurology and Psychiatry, Columbia University and the Hereditary Disease Foundation</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1990">1990</date><biblScope unit="vol">5</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="93">93</biblScope><biblScope unit="page" to="99">99</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DAA36F6D4D57D7754CFAF6713607C7AC639D07FB</idno><idno type="DOI">10.1002/mds.870050202</idno><idno type="ArticleID">MDS870050202</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Disease progression</term><term>Humans</term><term>Huntington Disease (epidemiology)</term><term>Huntington Disease (physiopathology)</term><term>Huntington's disease</term><term>Middle Aged</term><term>Prospective study</term><term>Risk</term><term>Venezuela</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Venezuela</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Venezuela</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Humans</term><term>Middle Aged</term><term>Risk</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Persons symptomatic and at risk for Huntington's disease (HD) from a large extended family in the state of Zulia, Venezuela, have been followed prospectively for 7 years. Between 1981 and 1988, 593 people were examined, of whom 128 had symptomatic HD and 171 persons at risk had examination abnormalities that were insufficient to meet criteria for diagnosis. The remaining 294 had normal examinations. Abnormalities of saccadic eye movement and slowness of rapid alternating movements were the most common abnormalities found in at‐risk individuals. Thirty persons who did not meet criteria for diagnosis at their first examination have subsequently been diagnosed with symptomatic HD. Their average age at diagnosis was 33.5 ± 8.3 (SD) years. The likelihood of developing symptomatic HD within 3 years was 3% for those persons with normal first examinations, 23% for those with mildly abnormal first examinations, and 60% for those with highly abnormal first examinations. The rate of disease progression in early symptomatic cases were 1.4 ± 0.1 (SEM) points per year on the Shoulson‐Fahn functional capacity scale. Paternal or maternal inheritance did not appear to affect the rate of progression in this group of individuals. The data suggest that there is not a discrete age of onset but rather a prolonged period of time during which symptoms unfold.</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Venezuela</li><li>États-Unis</li></country><region><li>Californie</li><li>Floride</li><li>Indiana</li><li>Michigan</li><li>État de New York</li></region></list><tree><noCountry><name sortKey="Sanchez Amos, Juan" sort="Sanchez Amos, Juan" uniqKey="Sanchez Amos J" first="Juan" last="Sanchez-Ramos">Juan Sanchez-Ramos</name><name sortKey="Shoulson, Ira" sort="Shoulson, Ira" uniqKey="Shoulson I" first="Ira" last="Shoulson">Ira Shoulson</name><name sortKey="Starosta Ubenstein, Simon" sort="Starosta Ubenstein, Simon" uniqKey="Starosta Ubenstein S" first="Simon" last="Starosta-Rubenstein">Simon Starosta-Rubenstein</name></noCountry><country name="États-Unis"><region name="Michigan"><name sortKey="Penney Jr" sort="Penney Jr" uniqKey="Penney Jr" last="Penney Jr.">Penney Jr.</name></region><name sortKey="Alvir, Jose" sort="Alvir, Jose" uniqKey="Alvir J" first="Jose" last="Alvir">Jose Alvir</name><name sortKey="Conneally, P Michael" sort="Conneally, P Michael" uniqKey="Conneally P" first="P. Michael" last="Conneally">P. Michael Conneally</name><name sortKey="Gomez, Fidela" sort="Gomez, Fidela" uniqKey="Gomez F" first="Fidela" last="Gomez">Fidela Gomez</name><name sortKey="Penchaszadeh, Graciela" sort="Penchaszadeh, Graciela" uniqKey="Penchaszadeh G" first="Graciela" last="Penchaszadeh">Graciela Penchaszadeh</name><name sortKey="Snodgrass, S Robert" sort="Snodgrass, S Robert" uniqKey="Snodgrass S" first="S. Robert" last="Snodgrass">S. Robert Snodgrass</name><name sortKey="Wexler, Nancy S" sort="Wexler, Nancy S" uniqKey="Wexler N" first="Nancy S." last="Wexler">Nancy S. Wexler</name><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name></country><country name="Espagne"><noRegion><name sortKey="Ramos Rroyo, Maria" sort="Ramos Rroyo, Maria" uniqKey="Ramos Rroyo M" first="Maria" last="Ramos-Arroyo">Maria Ramos-Arroyo</name></noRegion></country><country name="Venezuela"><noRegion><name sortKey="Esteves, Jesus" sort="Esteves, Jesus" uniqKey="Esteves J" first="Jesus" last="Esteves">Jesus Esteves</name></noRegion><name sortKey="Bonilla, Ernesto" sort="Bonilla, Ernesto" uniqKey="Bonilla E" first="Ernesto" last="Bonilla">Ernesto Bonilla</name><name sortKey="Dequiroz, Iris" sort="Dequiroz, Iris" uniqKey="Dequiroz I" first="Iris" last="Dequiroz">Iris Dequiroz</name><name sortKey="Marsol, Nelson" sort="Marsol, Nelson" uniqKey="Marsol N" first="Nelson" last="Marsol">Nelson Marsol</name><name sortKey="Moreno, Humberto" sort="Moreno, Humberto" uniqKey="Moreno H" first="Humberto" last="Moreno">Humberto Moreno</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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