MovDisordV3, Main, Exploration, bibRecord, 000F60

The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients

Identifieur interne : 000F60 ( Main/Exploration ); précédent : 000F59; suivant : 000F61

The 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.

RBID : Pascal:12-0340020

Descripteurs français

Pascal (Inist)
- Atrophie, Pathologie du système nerveux, Ataxie spinocérébelleuse, Japonais, Homme, Cervelet, Age apparition, Hyperréflexie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of onset, Atrophy, Cerebellum, Human, Japanese, Nervous system diseases, Spinocerebellar ataxia.

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.

Affiliations:

Japon

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000104
to stream PascalFrancis, to step Curation: 002C10
to stream PascalFrancis, to step Checkpoint: 000032
to stream Main, to step Merge: 001011
to stream Main, to step Curation: 000F60

Le document en format XML

<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>
<idno type="wicri:doubleKey">0885-3185:2012:Sugihara K:the:clinical:characteristics</idno>
<idno type="wicri:Area/Main/Merge">001011</idno>
<idno type="wicri:Area/Main/Curation">000F60</idno>
<idno type="wicri:Area/Main/Exploration">000F60</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>
<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)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F60 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000F60 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:12-0340020
   |texte=   The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients

The Clinical Characteristics of Spinocerebellar Ataxia 36: A Study of 2121 Japanese Ataxia Patients

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri