The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.
Identifieur interne : 000B85 ( Main/Exploration ); précédent : 000B84; suivant : 000B86The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.
Auteurs : Katsunobu Sugihara [Japon] ; Hirofumi Maruyama ; Hiroyuki Morino ; Ryosuke Miyamoto ; Hiroki Ueno ; Masayasu Matsumoto ; Ryuji Kaji ; Hiroshi Kitaguchi ; Motohiro Yukitake ; Yasuto Higashi ; Kazuto Nishinaka ; Masaya Oda ; Yuishin Izumi ; Hideshi KawakamiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adult, Age of Onset, Asian Continental Ancestry Group (genetics), Brain Stem (pathology), Cerebellum (pathology), Disease Progression, Female, Humans, Japan (epidemiology), Male, Middle Aged, Neurologic Examination, Polymerase Chain Reaction, Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Trinucleotide Repeat Expansion.
- MESH :
- geographic , epidemiology : Japan.
- epidemiology : Spinocerebellar Ataxias.
- genetics : Asian Continental Ancestry Group, Spinocerebellar Ataxias.
- pathology : Brain Stem, Cerebellum, Spinocerebellar Ataxias.
- Adult, Age of Onset, Disease Progression, Female, Humans, Male, Middle Aged, Neurologic Examination, Polymerase Chain Reaction, Trinucleotide Repeat Expansion.
Abstract
Spinocerebellar ataxia 36 is caused by the expansion of the intronic GGCCTG hexanucleotide repeat in NOP56. The original article describing this condition demonstrated that patients with spinocerebellar ataxia 36 present with tongue atrophy, a finding that had not been seen in previous types of spinocerebellar ataxias. A total of 2121 patients with clinically diagnosed spinocerebellar ataxia participated in the study. We screened our patient samples for spinocerebellar ataxia 36 using the repeat-primed polymerase chain reaction method and also determined the clinical features of spinocerebellar ataxia 36. Of the ataxia cases examined, 12 were identified as spinocerebellar ataxia 36. Of these, 7 cases (6 families) were autosomal dominant, 4 cases (three families) had a positive family history but were not autosomal dominant, and 1 case was sporadic. The average age of onset was 51.7 years, and disease progression was slow. The main symptoms and signs of disease included ataxia, dysarthria, and hyperreflexia. Approximately half the affected patients demonstrated nystagmus, bulging eyes, and a positive pathological reflex, although dysphagia, tongue atrophy, and hearing loss were rare. Moreover, the observed atrophy of the cerebellum and brain stem was not severe. The patients identified in this study were concentrated in western Japan. The frequency of spinocerebellar ataxia 36 was approximately 1.2% in the autosomal dominant group, and the age of onset for this condition was later in comparison with other spinocerebellar ataxia subtypes.
DOI: 10.1002/mds.25092
PubMed: 22753339
Affiliations:
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uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name></author><author><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name></author><author><name sortKey="Ueno, Hiroki" sort="Ueno, Hiroki" uniqKey="Ueno H" first="Hiroki" last="Ueno">Hiroki Ueno</name></author><author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name></author><author><name sortKey="Kitaguchi, Hiroshi" sort="Kitaguchi, Hiroshi" uniqKey="Kitaguchi H" first="Hiroshi" last="Kitaguchi">Hiroshi Kitaguchi</name></author><author><name sortKey="Yukitake, Motohiro" sort="Yukitake, Motohiro" uniqKey="Yukitake M" first="Motohiro" last="Yukitake">Motohiro Yukitake</name></author><author><name sortKey="Higashi, Yasuto" sort="Higashi, Yasuto" uniqKey="Higashi Y" first="Yasuto" last="Higashi">Yasuto Higashi</name></author><author><name sortKey="Nishinaka, Kazuto" sort="Nishinaka, Kazuto" uniqKey="Nishinaka K" first="Kazuto" last="Nishinaka">Kazuto Nishinaka</name></author><author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name></author><author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25092</idno><idno type="RBID">pubmed:22753339</idno><idno type="pmid">22753339</idno><idno type="wicri:Area/PubMed/Corpus">000D15</idno><idno type="wicri:Area/PubMed/Curation">000D15</idno><idno 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Medicine, Hiroshima University, Hiroshima</wicri:regionArea><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name></author><author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name></author><author><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name></author><author><name sortKey="Ueno, Hiroki" sort="Ueno, Hiroki" uniqKey="Ueno H" first="Hiroki" last="Ueno">Hiroki Ueno</name></author><author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name></author><author><name sortKey="Kitaguchi, Hiroshi" sort="Kitaguchi, Hiroshi" uniqKey="Kitaguchi H" first="Hiroshi" last="Kitaguchi">Hiroshi Kitaguchi</name></author><author><name sortKey="Yukitake, Motohiro" sort="Yukitake, Motohiro" uniqKey="Yukitake M" first="Motohiro" last="Yukitake">Motohiro Yukitake</name></author><author><name sortKey="Higashi, Yasuto" sort="Higashi, Yasuto" uniqKey="Higashi Y" first="Yasuto" last="Higashi">Yasuto Higashi</name></author><author><name sortKey="Nishinaka, Kazuto" sort="Nishinaka, Kazuto" uniqKey="Nishinaka K" first="Kazuto" last="Nishinaka">Kazuto Nishinaka</name></author><author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name></author><author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Asian Continental Ancestry Group (genetics)</term><term>Brain Stem (pathology)</term><term>Cerebellum (pathology)</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Japan (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Polymerase Chain Reaction</term><term>Spinocerebellar Ataxias (epidemiology)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (pathology)</term><term>Trinucleotide Repeat Expansion</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>Asian Continental Ancestry Group</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain Stem</term><term>Cerebellum</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Polymerase Chain Reaction</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia 36 is caused by the expansion of the intronic GGCCTG hexanucleotide repeat in NOP56. The original article describing this condition demonstrated that patients with spinocerebellar ataxia 36 present with tongue atrophy, a finding that had not been seen in previous types of spinocerebellar ataxias. A total of 2121 patients with clinically diagnosed spinocerebellar ataxia participated in the study. We screened our patient samples for spinocerebellar ataxia 36 using the repeat-primed polymerase chain reaction method and also determined the clinical features of spinocerebellar ataxia 36. Of the ataxia cases examined, 12 were identified as spinocerebellar ataxia 36. Of these, 7 cases (6 families) were autosomal dominant, 4 cases (three families) had a positive family history but were not autosomal dominant, and 1 case was sporadic. The average age of onset was 51.7 years, and disease progression was slow. The main symptoms and signs of disease included ataxia, dysarthria, and hyperreflexia. Approximately half the affected patients demonstrated nystagmus, bulging eyes, and a positive pathological reflex, although dysphagia, tongue atrophy, and hearing loss were rare. Moreover, the observed atrophy of the cerebellum and brain stem was not severe. The patients identified in this study were concentrated in western Japan. The frequency of spinocerebellar ataxia 36 was approximately 1.2% in the autosomal dominant group, and the age of onset for this condition was later in comparison with other spinocerebellar ataxia subtypes.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><name sortKey="Higashi, Yasuto" sort="Higashi, Yasuto" uniqKey="Higashi Y" first="Yasuto" last="Higashi">Yasuto Higashi</name><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name><name sortKey="Kitaguchi, Hiroshi" sort="Kitaguchi, Hiroshi" uniqKey="Kitaguchi H" first="Hiroshi" last="Kitaguchi">Hiroshi Kitaguchi</name><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name><name sortKey="Nishinaka, Kazuto" sort="Nishinaka, Kazuto" uniqKey="Nishinaka K" first="Kazuto" last="Nishinaka">Kazuto Nishinaka</name><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name><name sortKey="Ueno, Hiroki" sort="Ueno, Hiroki" uniqKey="Ueno H" first="Hiroki" last="Ueno">Hiroki Ueno</name><name sortKey="Yukitake, Motohiro" sort="Yukitake, Motohiro" uniqKey="Yukitake M" first="Motohiro" last="Yukitake">Motohiro Yukitake</name></noCountry><country name="Japon"><noRegion><name sortKey="Sugihara, Katsunobu" sort="Sugihara, Katsunobu" uniqKey="Sugihara K" first="Katsunobu" last="Sugihara">Katsunobu Sugihara</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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