MovDisordV3, PascalFrancis, Curation, bibRecord, 001D01

Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan

Identifieur interne : 001D01 ( PascalFrancis/Curation ); précédent : 001D00; suivant : 001D02

Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan

Auteurs : Hiroyuki Tomiyama [Japon] ; Yasumasa Kokubo [Japon] ; Ryogen Sasaki [Japon] ; YUANZHE LI [Japon] ; Yoko Imamichi [Japon] ; Manabu Funayama [Japon] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon] ; Shigeki Kuzuhara [Japon]

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:09-0058930

Descripteurs français

Pascal (Inist)
- Sclérose latérale amyotrophique, Parkinsonisme, Démence, Syndrome de Guam, Pathologie du système nerveux, Mutation, Japon.
Wicri :
- geographic : Japon.

English descriptors

KwdEn :
- Amyotrophic lateral sclerosis, Dementia, Guam syndrome, Japan, Mutation, Nervous system diseases, Parkinsonism.

Abstract

To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathyrelated gene (GSK3β), and parkinsonism-related genes (alphasynuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alphasynuclein, TDP-43 (or TARDBP), GSK3β, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3β, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 protein-opathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.

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A11	`02`	`1`		`@1 KOKUBO (Yasumasa)`
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C01	`01`		`ENG`	@0 To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathyrelated gene (GSK3β), and parkinsonism-related genes (alphasynuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alphasynuclein, TDP-43 (or TARDBP), GSK3β, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3β, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 protein-opathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.
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C07	`01`	`X`	`FRE`	`@0 Asie @2 NG`
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C07	`06`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 42`
C07	`06`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 42`
C07	`06`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 42`
N21				`@1 040`
N44	`01`			`@1 OTO`
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Pascal:09-0058930

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan</title>
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<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
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<author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
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<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amyotrophic lateral sclerosis</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Sclérose latérale amyotrophique</term>
<term>Parkinsonisme</term>
<term>Démence</term>
<term>Syndrome de Guam</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Japon</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term>
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<front><div type="abstract" xml:lang="en">To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathyrelated gene (GSK3β), and parkinsonism-related genes (alphasynuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alphasynuclein, TDP-43 (or TARDBP), GSK3β, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3β, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 protein-opathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.</div>
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<fA06><s2>16</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>TOMIYAMA (Hiroyuki)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>KOKUBO (Yasumasa)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>SASAKI (Ryogen)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>YUANZHE LI</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>IMAMICHI (Yoko)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>FUNAYAMA (Manabu)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MIZUNO (Yoshikuni)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>HATTORI (Nobutaka)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>KUZUHARA (Shigeki)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Neurology, Mie University School of Medicine</s1>
<s2>Tsu</s2>
<s3>JPN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Research Institute for Diseases of Old Ages, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, National Center Hospital of Neurology and Psychiatry</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>2344-2348</s1>
</fA20>
<fA21><s1>2008</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000196116650080</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>43 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0058930</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>To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathyrelated gene (GSK3β), and parkinsonism-related genes (alphasynuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alphasynuclein, TDP-43 (or TARDBP), GSK3β, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3β, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 protein-opathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.</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>Sclérose latérale amyotrophique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Amyotrophic lateral sclerosis</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Esclerosis lateral amiotrófica</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Démence</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Dementia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Demencia</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Syndrome de Guam</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Guam syndrome</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Guam sindrome</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Japon</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Japan</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Japón</s0>
<s2>NG</s2>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Asie</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Asia</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Asia</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie de la moelle épinière</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Spinal cord disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Médula espinal patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>42</s5>
</fC07>
<fN21><s1>040</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan

Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan

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