A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the SPG4 locus on chromosome 2p21–p22 has been s...
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| Veröffentlicht in: | Journal of the neurological sciences 2001-03, Vol.185 (1), p.63-68 |
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| container_title | Journal of the neurological sciences |
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| creator | Namekawa, Michito Takiyama, Yoshihisa Sakoe, Kumi Shimazaki, Haruo Amaike, Miho Niijima, Kenji Nakano, Imaharu Nishizawa, Masatoyo |
| description | We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the
SPG4 locus on chromosome 2p21–p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families. Very recently, Hazan et al. identified the
SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin. We found a novel insertion mutation (nt1272–1273insA) in exon 8 of the
SPG4 gene in the present family. Our study is the first to confirm the causative mutation of the
SPG4 gene in Japanese. Clinically, it is noteworthy that the disease progression in the patients of this family was slow in spite of the late onset, and more than half of the patients showed severe constipation in addition to pure spastic paraplegia. |
| doi_str_mv | 10.1016/S0022-510X(01)00470-1 |
| format | Article |
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SPG4 locus on chromosome 2p21–p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families. Very recently, Hazan et al. identified the
SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin. We found a novel insertion mutation (nt1272–1273insA) in exon 8 of the
SPG4 gene in the present family. Our study is the first to confirm the causative mutation of the
SPG4 gene in Japanese. Clinically, it is noteworthy that the disease progression in the patients of this family was slow in spite of the late onset, and more than half of the patients showed severe constipation in addition to pure spastic paraplegia.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/S0022-510X(01)00470-1</identifier><identifier>PMID: 11266693</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Adenosine Triphosphatases - genetics ; Aged ; Biological and medical sciences ; Constipation ; Constipation - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Exons ; Family Health ; Female ; Humans ; Ileus ; Intestinal Obstruction - genetics ; Japan ; Male ; Medical sciences ; Middle Aged ; Neurology ; Novel insertion mutation ; Pedigree ; Phenotype ; Point Mutation ; Pure hereditary spastic paraplegia ; Spastic Paraplegia, Hereditary - genetics ; Spastin ; SPG4 gene</subject><ispartof>Journal of the neurological sciences, 2001-03, Vol.185 (1), p.63-68</ispartof><rights>2001 Elsevier Science B.V.</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-279bcc7859a3cb39b3b0f3e062171347a26172f87bb130cbbcf23a49aeaf01df3</citedby><cites>FETCH-LOGICAL-c389t-279bcc7859a3cb39b3b0f3e062171347a26172f87bb130cbbcf23a49aeaf01df3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0022-510X(01)00470-1$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=943759$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11266693$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Namekawa, Michito</creatorcontrib><creatorcontrib>Takiyama, Yoshihisa</creatorcontrib><creatorcontrib>Sakoe, Kumi</creatorcontrib><creatorcontrib>Shimazaki, Haruo</creatorcontrib><creatorcontrib>Amaike, Miho</creatorcontrib><creatorcontrib>Niijima, Kenji</creatorcontrib><creatorcontrib>Nakano, Imaharu</creatorcontrib><creatorcontrib>Nishizawa, Masatoyo</creatorcontrib><title>A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the
SPG4 locus on chromosome 2p21–p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families. Very recently, Hazan et al. identified the
SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin. We found a novel insertion mutation (nt1272–1273insA) in exon 8 of the
SPG4 gene in the present family. Our study is the first to confirm the causative mutation of the
SPG4 gene in Japanese. Clinically, it is noteworthy that the disease progression in the patients of this family was slow in spite of the late onset, and more than half of the patients showed severe constipation in addition to pure spastic paraplegia.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Constipation</subject><subject>Constipation - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Exons</subject><subject>Family Health</subject><subject>Female</subject><subject>Humans</subject><subject>Ileus</subject><subject>Intestinal Obstruction - genetics</subject><subject>Japan</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Novel insertion mutation</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Pure hereditary spastic paraplegia</subject><subject>Spastic Paraplegia, Hereditary - genetics</subject><subject>Spastin</subject><subject>SPG4 gene</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF2L1DAUhoMo7rj6E5SAIHpRPWnaJvFGlkVXZUFhFbwLSXqyG23TMUlX5t_bmSnrpVc5hOc9Hw8hTxm8ZsC6N1cAdV21DH68BPYKoBFQsXtkw6SQVSslv082d8gJeZTzTwDopFQPyQljddd1im_IrzM6mHSN9LPZmogZ6dXXi4Z6M4ZhR_-EckMNjdMtDjTEjKmEKdJxLuZQTJ6WmzVyjRHfLrAbQgzODNTE_vBZgqO5zP3uMXngzZDxyfqeku8f3n87_1hdfrn4dH52WTkuValqoaxzQrbKcGe5styC5whdzQTjjTB1x0TtpbCWcXDWOl9z0yiDxgPrPT8lL459t2n6PWMuegzZ4TAsB05z1qJTSnWgFrA9gi5NOSf0epvCaNJOM9B7y_pgWe8VamD6YFmzJfdsHTDbEft_qVXrAjxfAZMXFT6Z6EK-41TDRbsf_-5I4SLjNmDS2QWMDvuQ0BXdT-E_i_wFIkiYUw</recordid><startdate>20010315</startdate><enddate>20010315</enddate><creator>Namekawa, Michito</creator><creator>Takiyama, Yoshihisa</creator><creator>Sakoe, Kumi</creator><creator>Shimazaki, Haruo</creator><creator>Amaike, Miho</creator><creator>Niijima, Kenji</creator><creator>Nakano, Imaharu</creator><creator>Nishizawa, Masatoyo</creator><general>Elsevier B.V</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20010315</creationdate><title>A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study</title><author>Namekawa, Michito ; Takiyama, Yoshihisa ; Sakoe, Kumi ; Shimazaki, Haruo ; Amaike, Miho ; Niijima, Kenji ; Nakano, Imaharu ; Nishizawa, Masatoyo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-279bcc7859a3cb39b3b0f3e062171347a26172f87bb130cbbcf23a49aeaf01df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adenosine Triphosphatases - genetics</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Constipation</topic><topic>Constipation - genetics</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Exons</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>Ileus</topic><topic>Intestinal Obstruction - genetics</topic><topic>Japan</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Novel insertion mutation</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Point Mutation</topic><topic>Pure hereditary spastic paraplegia</topic><topic>Spastic Paraplegia, Hereditary - genetics</topic><topic>Spastin</topic><topic>SPG4 gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Namekawa, Michito</creatorcontrib><creatorcontrib>Takiyama, Yoshihisa</creatorcontrib><creatorcontrib>Sakoe, Kumi</creatorcontrib><creatorcontrib>Shimazaki, Haruo</creatorcontrib><creatorcontrib>Amaike, Miho</creatorcontrib><creatorcontrib>Niijima, Kenji</creatorcontrib><creatorcontrib>Nakano, Imaharu</creatorcontrib><creatorcontrib>Nishizawa, Masatoyo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Namekawa, Michito</au><au>Takiyama, Yoshihisa</au><au>Sakoe, Kumi</au><au>Shimazaki, Haruo</au><au>Amaike, Miho</au><au>Niijima, Kenji</au><au>Nakano, Imaharu</au><au>Nishizawa, Masatoyo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>2001-03-15</date><risdate>2001</risdate><volume>185</volume><issue>1</issue><spage>63</spage><epage>68</epage><pages>63-68</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>We studied a large Japanese family with autosomal dominant pure hereditary spastic paraplegia (ADPHSP) clinically and genetically. To date, seven loci causing ADPHSP have been mapped to chromosomes 14q, 2p, 15q, 8q, 12q, 2q, and 19q. Among these loci, the
SPG4 locus on chromosome 2p21–p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families. Very recently, Hazan et al. identified the
SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin. We found a novel insertion mutation (nt1272–1273insA) in exon 8 of the
SPG4 gene in the present family. Our study is the first to confirm the causative mutation of the
SPG4 gene in Japanese. Clinically, it is noteworthy that the disease progression in the patients of this family was slow in spite of the late onset, and more than half of the patients showed severe constipation in addition to pure spastic paraplegia.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>11266693</pmid><doi>10.1016/S0022-510X(01)00470-1</doi><tpages>6</tpages></addata></record> |
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| ispartof | Journal of the neurological sciences, 2001-03, Vol.185 (1), p.63-68 |
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| subjects | Adenosine Triphosphatases - genetics Aged Biological and medical sciences Constipation Constipation - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Exons Family Health Female Humans Ileus Intestinal Obstruction - genetics Japan Male Medical sciences Middle Aged Neurology Novel insertion mutation Pedigree Phenotype Point Mutation Pure hereditary spastic paraplegia Spastic Paraplegia, Hereditary - genetics Spastin SPG4 gene |
| title | A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study |
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