Long‐term disability and prognosis in dentatorubral‐pallidoluysian atrophy: A correlation with CAG repeat length
Identifieur interne : 001C00 ( Main/Exploration ); précédent : 001B99; suivant : 001C01Long‐term disability and prognosis in dentatorubral‐pallidoluysian atrophy: A correlation with CAG repeat length
Auteurs : Arika Hasegawa [Japon] ; Takeshi Ikeuchi [Japon] ; Ryoko Koike [Japon] ; Nae Matsubara [Japon] ; Miyuki Tsuchiya [Japon] ; Hiroaki Nozaki [Japon] ; Atsushi Homma [Japon] ; Jiro Idezuka [Japon] ; Masatoyo Nishizawa [Japon] ; Osamu Onodera [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-08-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Age of Onset, Aged, Aged, 80 and over, Atrophy, CAG repeat expansion, Child, Child, Preschool, DRPLA, Disability, Female, Genetic Predisposition to Disease (genetics), Humans, Japan, Kaplan-Meier Estimate, Long term, Male, Middle Aged, Movement Disorders (etiology), Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (genetics), Myoclonic Epilepsies, Progressive (mortality), Nerve Tissue Proteins (genetics), Nervous system diseases, Prognosis, Statistics, Nonparametric, Trinucleotide Repeat Expansion (genetics), Young Adult, prognosis.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- geographic : Japan.
- complications : Myoclonic Epilepsies, Progressive.
- diagnosis : Myoclonic Epilepsies, Progressive.
- etiology : Movement Disorders.
- genetics : Genetic Predisposition to Disease, Myoclonic Epilepsies, Progressive, Trinucleotide Repeat Expansion.
- mortality : Myoclonic Epilepsies, Progressive.
- Adolescent, Adult, Age Factors, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Prognosis, Statistics, Nonparametric, Young Adult.
Abstract
Dentatorubral‐pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion. Previous studies demonstrated that the onset of DRPLA is closely associated with CAG repeat length. However, the natural history of DRPLA has not yet been evaluated. We here retrospectively investigated the factors that determine the disease milestones and prognosis in 183 Japanese patients genetically diagnosed with DRPLA. We determined the age at onset, age at which each of the subsequent clinical manifestations appeared, age at becoming wheelchair‐bound, and age at death. Kaplan‐Meier analysis revealed that the patients with CAG repeats larger than the median length of 65 repeats developed each of the clinical features of DRPLA at a younger age than those with <65 repeats. The patients became wheelchair‐bound at a median age of 33 years (n = 61; range, 3–77 years) and died at a median age of 49 years (n = 23; range, 18–80 years). The ages at becoming wheelchair‐bound and at death strongly correlated with the expanded CAG repeat length. Moreover, the patients with ≥65 CAG repeats showed a more severe long‐term disability and a poorer prognosis. In contrast, the rate of progression after the onset did not correlate with CAG repeat length. The CAG repeat length may have a considerable effect on not only the disease onset but also the disease milestones and prognosis in DRPLA patients. These effects of CAG repeat length may be relevant in designing future clinical therapeutic trials. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23167
Affiliations:
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wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Nishi‐Niigata Chuo National Hospital, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Tsuchiya, Miyuki" sort="Tsuchiya, Miyuki" uniqKey="Tsuchiya M" first="Miyuki" last="Tsuchiya">Miyuki Tsuchiya</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Neuroscience, Brain Research Institute, Niigata University, 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Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2010-08-15">2010-08-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1694">1694</biblScope><biblScope unit="page" to="1700">1700</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">189291A0C470C1E1C51CBB71B02678C93410BD7B</idno><idno type="DOI">10.1002/mds.23167</idno><idno type="ArticleID">MDS23167</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>Age Factors</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Atrophy</term><term>CAG repeat expansion</term><term>Child</term><term>Child, Preschool</term><term>DRPLA</term><term>Disability</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Japan</term><term>Kaplan-Meier Estimate</term><term>Long term</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (etiology)</term><term>Myoclonic Epilepsies, Progressive (complications)</term><term>Myoclonic Epilepsies, Progressive (diagnosis)</term><term>Myoclonic Epilepsies, Progressive (genetics)</term><term>Myoclonic Epilepsies, Progressive (mortality)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Prognosis</term><term>Statistics, Nonparametric</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term><term>prognosis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Myoclonic Epilepsies, Progressive</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Kaplan-Meier Estimate</term><term>Male</term><term>Middle Aged</term><term>Prognosis</term><term>Statistics, Nonparametric</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie</term><term>Incapacité</term><term>Long terme</term><term>Pathologie du système nerveux</term><term>Pronostic</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dentatorubral‐pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder caused by CAG repeat expansion. Previous studies demonstrated that the onset of DRPLA is closely associated with CAG repeat length. However, the natural history of DRPLA has not yet been evaluated. We here retrospectively investigated the factors that determine the disease milestones and prognosis in 183 Japanese patients genetically diagnosed with DRPLA. We determined the age at onset, age at which each of the subsequent clinical manifestations appeared, age at becoming wheelchair‐bound, and age at death. Kaplan‐Meier analysis revealed that the patients with CAG repeats larger than the median length of 65 repeats developed each of the clinical features of DRPLA at a younger age than those with <65 repeats. The patients became wheelchair‐bound at a median age of 33 years (n = 61; range, 3–77 years) and died at a median age of 49 years (n = 23; range, 18–80 years). The ages at becoming wheelchair‐bound and at death strongly correlated with the expanded CAG repeat length. Moreover, the patients with ≥65 CAG repeats showed a more severe long‐term disability and a poorer prognosis. In contrast, the rate of progression after the onset did not correlate with CAG repeat length. The CAG repeat length may have a considerable effect on not only the disease onset but also the disease milestones and prognosis in DRPLA patients. These effects of CAG repeat length may be relevant in designing future clinical therapeutic trials. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Hasegawa, Arika" sort="Hasegawa, Arika" uniqKey="Hasegawa A" first="Arika" last="Hasegawa">Arika Hasegawa</name></noRegion><name sortKey="Hasegawa, Arika" sort="Hasegawa, Arika" uniqKey="Hasegawa A" first="Arika" last="Hasegawa">Arika Hasegawa</name><name sortKey="Homma, Atsushi" sort="Homma, Atsushi" uniqKey="Homma A" first="Atsushi" last="Homma">Atsushi Homma</name><name sortKey="Idezuka, Jiro" sort="Idezuka, Jiro" uniqKey="Idezuka J" first="Jiro" last="Idezuka">Jiro Idezuka</name><name sortKey="Ikeuchi, Takeshi" sort="Ikeuchi, Takeshi" uniqKey="Ikeuchi T" first="Takeshi" last="Ikeuchi">Takeshi Ikeuchi</name><name sortKey="Koike, Ryoko" sort="Koike, Ryoko" uniqKey="Koike R" first="Ryoko" last="Koike">Ryoko Koike</name><name sortKey="Matsubara, Nae" sort="Matsubara, Nae" uniqKey="Matsubara N" first="Nae" last="Matsubara">Nae Matsubara</name><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name><name sortKey="Tsuchiya, Miyuki" sort="Tsuchiya, Miyuki" uniqKey="Tsuchiya M" first="Miyuki" last="Tsuchiya">Miyuki Tsuchiya</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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