The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients
Identifieur interne : 000032 ( PascalFrancis/Checkpoint ); précédent : 000031; suivant : 000033The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients
Auteurs : Katsunobu Sugihara [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Ryosuke Miyamoto [Japon] ; Hiroki Ueno [Japon] ; Masayasu Matsumoto [Japon] ; Ryuji Kaji [Japon] ; Hiroshi Kitaguchi [Japon] ; Motohiro Yukitake [Japon] ; Yasuto Higashi [Japon] ; Kazuto Nishinaka [Japon] ; Masaya Oda [Japon] ; Yuishin Izumi [Japon] ; Hideshi Kawakami [Japon]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients</title><author><name sortKey="Sugihara, Katsunobu" sort="Sugihara, Katsunobu" uniqKey="Sugihara K" first="Katsunobu" last="Sugihara">Katsunobu Sugihara</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Ueno, Hiroki" sort="Ueno, Hiroki" uniqKey="Ueno H" first="Hiroki" last="Ueno">Hiroki Ueno</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Science</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Science</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Tokushima University</s1><s2>Tokushima</s2><s3>JPN</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tokushima</wicri:noRegion></affiliation></author><author><name sortKey="Kitaguchi, Hiroshi" sort="Kitaguchi, Hiroshi" uniqKey="Kitaguchi H" first="Hiroshi" last="Kitaguchi">Hiroshi Kitaguchi</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Kurashiki Central Hospital</s1><s2>Kurashiki</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Kurashiki</wicri:noRegion></affiliation></author><author><name sortKey="Yukitake, Motohiro" sort="Yukitake, Motohiro" uniqKey="Yukitake M" first="Motohiro" last="Yukitake">Motohiro Yukitake</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Department of Internal Medicine, Faculty of Medicine, Saga University</s1><s2>Saga</s2><s3>JPN</s3><sZ>9 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saga</wicri:noRegion></affiliation></author><author><name sortKey="Higashi, Yasuto" sort="Higashi, Yasuto" uniqKey="Higashi Y" first="Yasuto" last="Higashi">Yasuto Higashi</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Himeji Central Hospital</s1><s2>Himeji</s2><s3>JPN</s3><sZ>10 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Himeji</wicri:noRegion></affiliation></author><author><name sortKey="Nishinaka, Kazuto" sort="Nishinaka, Kazuto" uniqKey="Nishinaka K" first="Kazuto" last="Nishinaka">Kazuto Nishinaka</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Sumitomo Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>11 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Vihara Hananosato Hospital</s1><s2>Miyoshi</s2><s3>JPN</s3><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Vihara Hananosato Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Tokushima University</s1><s2>Tokushima</s2><s3>JPN</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tokushima</wicri:noRegion></affiliation></author><author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0340020</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0340020 INIST</idno><idno type="RBID">Pascal:12-0340020</idno><idno type="wicri:Area/PascalFrancis/Corpus">000104</idno><idno type="wicri:Area/PascalFrancis/Curation">002C10</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000032</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients</title><author><name sortKey="Sugihara, Katsunobu" sort="Sugihara, Katsunobu" uniqKey="Sugihara K" first="Katsunobu" last="Sugihara">Katsunobu Sugihara</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><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><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Ueno, Hiroki" sort="Ueno, Hiroki" uniqKey="Ueno H" first="Hiroki" last="Ueno">Hiroki Ueno</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Science</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Science</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Tokushima University</s1><s2>Tokushima</s2><s3>JPN</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tokushima</wicri:noRegion></affiliation></author><author><name sortKey="Kitaguchi, Hiroshi" sort="Kitaguchi, Hiroshi" uniqKey="Kitaguchi H" first="Hiroshi" last="Kitaguchi">Hiroshi Kitaguchi</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Kurashiki Central Hospital</s1><s2>Kurashiki</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Kurashiki</wicri:noRegion></affiliation></author><author><name sortKey="Yukitake, Motohiro" sort="Yukitake, Motohiro" uniqKey="Yukitake M" first="Motohiro" last="Yukitake">Motohiro Yukitake</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Department of Internal Medicine, Faculty of Medicine, Saga University</s1><s2>Saga</s2><s3>JPN</s3><sZ>9 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saga</wicri:noRegion></affiliation></author><author><name sortKey="Higashi, Yasuto" sort="Higashi, Yasuto" uniqKey="Higashi Y" first="Yasuto" last="Higashi">Yasuto Higashi</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Himeji Central Hospital</s1><s2>Himeji</s2><s3>JPN</s3><sZ>10 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Himeji</wicri:noRegion></affiliation></author><author><name sortKey="Nishinaka, Kazuto" sort="Nishinaka, Kazuto" uniqKey="Nishinaka K" first="Kazuto" last="Nishinaka">Kazuto Nishinaka</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Sumitomo Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>11 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Vihara Hananosato Hospital</s1><s2>Miyoshi</s2><s3>JPN</s3><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Vihara Hananosato Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Tokushima University</s1><s2>Tokushima</s2><s3>JPN</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tokushima</wicri:noRegion></affiliation></author><author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hiroshima</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term><term>Atrophy</term><term>Cerebellum</term><term>Human</term><term>Japanese</term><term>Nervous system diseases</term><term>Spinocerebellar ataxia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie</term><term>Pathologie du système nerveux</term><term>Ataxie spinocérébelleuse</term><term>Japonais</term><term>Homme</term><term>Cervelet</term><term>Age apparition</term><term>Hyperréflexie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>27</s2></fA05><fA06><s2>9</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients</s1></fA08><fA11 i1="01" i2="1"><s1>SUGIHARA (Katsunobu)</s1></fA11><fA11 i1="02" i2="1"><s1>MARUYAMA (Hirofumi)</s1></fA11><fA11 i1="03" i2="1"><s1>MORINO (Hiroyuki)</s1></fA11><fA11 i1="04" i2="1"><s1>MIYAMOTO (Ryosuke)</s1></fA11><fA11 i1="05" i2="1"><s1>UENO (Hiroki)</s1></fA11><fA11 i1="06" i2="1"><s1>MATSUMOTO (Masayasu)</s1></fA11><fA11 i1="07" i2="1"><s1>KAJI (Ryuji)</s1></fA11><fA11 i1="08" i2="1"><s1>KITAGUCHI (Hiroshi)</s1></fA11><fA11 i1="09" i2="1"><s1>YUKITAKE (Motohiro)</s1></fA11><fA11 i1="10" i2="1"><s1>HIGASHI (Yasuto)</s1></fA11><fA11 i1="11" i2="1"><s1>NISHINAKA (Kazuto)</s1></fA11><fA11 i1="12" i2="1"><s1>ODA (Masaya)</s1></fA11><fA11 i1="13" i2="1"><s1>IZUMI (Yuishin)</s1></fA11><fA11 i1="14" i2="1"><s1>KAWAKAMI (Hideshi)</s1></fA11><fA14 i1="01"><s1>Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Science</s1><s2>Hiroshima</s2><s3>JPN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Tokushima University</s1><s2>Tokushima</s2><s3>JPN</s3><sZ>7 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Kurashiki Central Hospital</s1><s2>Kurashiki</s2><s3>JPN</s3><sZ>8 aut.</sZ></fA14><fA14 i1="05"><s1>Division of Neurology, Department of Internal Medicine, Faculty of Medicine, Saga University</s1><s2>Saga</s2><s3>JPN</s3><sZ>9 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Himeji Central Hospital</s1><s2>Himeji</s2><s3>JPN</s3><sZ>10 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Sumitomo Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>11 aut.</sZ></fA14><fA14 i1="08"><s1>Vihara Hananosato Hospital</s1><s2>Miyoshi</s2><s3>JPN</s3><sZ>12 aut.</sZ></fA14><fA20><s1>1158-1163</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000504065380170</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>13 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0340020</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17F</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Atrophie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Atrophy</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Atrofia</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Ataxie spinocérébelleuse</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Japonais</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Japanese</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Japonés</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Human</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Cervelet</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Cerebellum</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Cerebelo</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Age apparition</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Age of onset</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Edad aparición</s0><s5>13</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Hyperréflexie</s0><s4>INC</s4><s5>86</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Encéphale</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Encephalon</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>42</s5></fC07><fN21><s1>261</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Sugihara, Katsunobu" sort="Sugihara, Katsunobu" uniqKey="Sugihara K" first="Katsunobu" last="Sugihara">Katsunobu Sugihara</name></noRegion><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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