Clinical and genetic characterizations of 16q‐linked autosomal dominant spinocerebellar ataxia (AD‐SCA) and frequency analysis of AD‐SCA in the Japanese population
Identifieur interne : 002F59 ( Main/Exploration ); précédent : 002F58; suivant : 002F60Clinical and genetic characterizations of 16q‐linked autosomal dominant spinocerebellar ataxia (AD‐SCA) and frequency analysis of AD‐SCA in the Japanese population
Auteurs : Hiroaki Nozaki [Japon] ; Takeshi Ikeuchi [Japon] ; Akio Kawakami [Japon] ; Akio Kimura [Japon] ; Reiji Koide [Japon] ; Miyuki Tsuchiya [Japon] ; Yuusaku Nakmura [Japon] ; Tatsuro Mutoh [Japon] ; Hiroko Yamamoto [Japon] ; Naoki Nakao [Japon] ; Ko Sahashi [Japon] ; Masatoyo Nishizawa [Japon] ; Osamu Onodera [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- 16q‐SCA, Age of Onset, Aged, Cerebellar ataxia, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA (genetics), DNA (isolation & purification), Female, Gene Frequency, Genes, Dominant, Guanine Nucleotide Exchange Factors (genetics), Haplotype, Humans, Japan (epidemiology), Japanese, Male, Middle Aged, Nervous system diseases, Polymorphism, Single Nucleotide, Spectrin (genetics), Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, autosomal dominant cerebellar ataxia, common haplotype, frequency analysis., genetic testing.
- MESH :
- chemical , genetics : DNA, Guanine Nucleotide Exchange Factors, Spectrin.
- chemical , isolation & purification : DNA.
- geographic , epidemiology : Japan.
- epidemiology : Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias.
- Age of Onset, Aged, Chromosome Mapping, Chromosomes, Human, Pair 16, Female, Gene Frequency, Genes, Dominant, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide.
Abstract
Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the puratrophin‐1 gene was found to be associated with one type of AD‐SCA linked to chromosome 16q (16q‐SCA). To obtain further insight into the contribution of the C‐to‐T substitution in the puratrophin‐1 gene to the clinical and genetic characteristics of patients with 16q‐SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia. We found C‐to‐T substitution in the puratrophin‐1 gene in 57 unrelated families with 65 affected individuals. The mean age at onset in the patients with 16q‐SCA was 59.1 (range, 46–77). Ataxia is the most common initial symptom. The elderly patients over 65 occasionally showed other accompanying clinical features including abnormalities in tendon reflexes, involuntary movements, and reduced vibration sense. We also examined the frequency of the AD‐SCA subtype, considering the effects of age at onset. In the 686 AD‐SCA families, SCA6 and Machado‐Joseph disease/SCA3 are frequent subtypes, followed by dentatorubral‐pallidoluysian atrophy and 16q‐SCA. 16q‐SCA is not a rare subtype of Japanese AD‐SCA, particularly in patients with ages at onset over 60. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21443
Affiliations:
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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, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation><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="Ikeuchi, Takeshi" sort="Ikeuchi, Takeshi" uniqKey="Ikeuchi T" first="Takeshi" last="Ikeuchi">Takeshi Ikeuchi</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="Kawakami, Akio" sort="Kawakami, Akio" uniqKey="Kawakami A" first="Akio" last="Kawakami">Akio Kawakami</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kaetsu Hospital, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Kimura, Akio" sort="Kimura, Akio" uniqKey="Kimura A" first="Akio" last="Kimura">Akio Kimura</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Gifu</wicri:regionArea><wicri:noRegion>Gifu</wicri:noRegion></affiliation></author><author><name sortKey="Koide, Reiji" sort="Koide, Reiji" uniqKey="Koide R" first="Reiji" last="Koide">Reiji Koide</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></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="Nakmura, Yuusaku" sort="Nakmura, Yuusaku" uniqKey="Nakmura Y" first="Yuusaku" last="Nakmura">Yuusaku Nakmura</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Kinki University Sakai Hospital, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Mutoh, Tatsuro" sort="Mutoh, Tatsuro" uniqKey="Mutoh T" first="Tatsuro" last="Mutoh">Tatsuro Mutoh</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Fujita Health University School of Medicine, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Yamamoto, Hiroko" sort="Yamamoto, Hiroko" uniqKey="Yamamoto H" first="Hiroko" last="Yamamoto">Hiroko Yamamoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Fujita Health University School of Medicine, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Nakao, Naoki" sort="Nakao, Naoki" uniqKey="Nakao N" first="Naoki" last="Nakao">Naoki Nakao</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Aichi Medical University School of Medicine, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Sahashi, Ko" sort="Sahashi, Ko" uniqKey="Sahashi K" first="Ko" last="Sahashi">Ko Sahashi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Aichi Medical University School of Medicine, Aichi</wicri:regionArea><wicri:noRegion>Aichi</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="2007-04-30">2007-04-30</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="857">857</biblScope><biblScope unit="page" to="862">862</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">648EB27959EB90169C5D4F0F172AC2BD43921B7C</idno><idno type="DOI">10.1002/mds.21443</idno><idno type="ArticleID">MDS21443</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>16q‐SCA</term><term>Age of Onset</term><term>Aged</term><term>Cerebellar ataxia</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 16</term><term>DNA (genetics)</term><term>DNA (isolation & purification)</term><term>Female</term><term>Gene Frequency</term><term>Genes, Dominant</term><term>Guanine Nucleotide Exchange Factors (genetics)</term><term>Haplotype</term><term>Humans</term><term>Japan (epidemiology)</term><term>Japanese</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Polymorphism, Single Nucleotide</term><term>Spectrin (genetics)</term><term>Spinocerebellar Ataxias (epidemiology)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>autosomal dominant cerebellar ataxia</term><term>common haplotype</term><term>frequency analysis.</term><term>genetic testing</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>Guanine Nucleotide Exchange Factors</term><term>Spectrin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="isolation & purification" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 16</term><term>Female</term><term>Gene Frequency</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie cérébelleuse</term><term>Ataxie spinocérébelleuse</term><term>Haplotype</term><term>Japonais</term><term>Système nerveux pathologie</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">Autosomal dominant spinocerebellar ataxias (AD‐SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5′‐untranslated region of the puratrophin‐1 gene was found to be associated with one type of AD‐SCA linked to chromosome 16q (16q‐SCA). To obtain further insight into the contribution of the C‐to‐T substitution in the puratrophin‐1 gene to the clinical and genetic characteristics of patients with 16q‐SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia. We found C‐to‐T substitution in the puratrophin‐1 gene in 57 unrelated families with 65 affected individuals. The mean age at onset in the patients with 16q‐SCA was 59.1 (range, 46–77). Ataxia is the most common initial symptom. The elderly patients over 65 occasionally showed other accompanying clinical features including abnormalities in tendon reflexes, involuntary movements, and reduced vibration sense. We also examined the frequency of the AD‐SCA subtype, considering the effects of age at onset. In the 686 AD‐SCA families, SCA6 and Machado‐Joseph disease/SCA3 are frequent subtypes, followed by dentatorubral‐pallidoluysian atrophy and 16q‐SCA. 16q‐SCA is not a rare subtype of Japanese AD‐SCA, particularly in patients with ages at onset over 60. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Nozaki, Hiroaki" sort="Nozaki, Hiroaki" uniqKey="Nozaki H" first="Hiroaki" last="Nozaki">Hiroaki Nozaki</name></noRegion><name sortKey="Ikeuchi, Takeshi" sort="Ikeuchi, Takeshi" uniqKey="Ikeuchi T" first="Takeshi" last="Ikeuchi">Takeshi Ikeuchi</name><name sortKey="Kawakami, Akio" sort="Kawakami, Akio" uniqKey="Kawakami A" first="Akio" last="Kawakami">Akio Kawakami</name><name sortKey="Kimura, Akio" sort="Kimura, Akio" uniqKey="Kimura A" first="Akio" last="Kimura">Akio Kimura</name><name sortKey="Koide, Reiji" sort="Koide, Reiji" uniqKey="Koide R" first="Reiji" last="Koide">Reiji Koide</name><name sortKey="Mutoh, Tatsuro" sort="Mutoh, Tatsuro" uniqKey="Mutoh T" first="Tatsuro" last="Mutoh">Tatsuro Mutoh</name><name sortKey="Nakao, Naoki" sort="Nakao, Naoki" uniqKey="Nakao N" first="Naoki" last="Nakao">Naoki Nakao</name><name sortKey="Nakmura, Yuusaku" sort="Nakmura, Yuusaku" uniqKey="Nakmura Y" first="Yuusaku" last="Nakmura">Yuusaku Nakmura</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="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name><name sortKey="Sahashi, Ko" sort="Sahashi, Ko" uniqKey="Sahashi K" first="Ko" last="Sahashi">Ko Sahashi</name><name sortKey="Tsuchiya, Miyuki" sort="Tsuchiya, Miyuki" uniqKey="Tsuchiya M" first="Miyuki" last="Tsuchiya">Miyuki Tsuchiya</name><name sortKey="Yamamoto, Hiroko" sort="Yamamoto, Hiroko" uniqKey="Yamamoto H" first="Hiroko" last="Yamamoto">Hiroko Yamamoto</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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