Mutation Analyses in Amyotrophic Lateral Sclerosis/ Parkinsonism-Dementia Complex of the Kii Peninsula, Japan
Identifieur interne : 001D01 ( PascalFrancis/Curation ); précédent : 001D00; suivant : 001D02Mutation 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
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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<series><title level="j" type="main">Movement disorders</title>
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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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<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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