A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene
We describe a Japanese family which includes 13 patients in five generations who have dominantly inherited ataxia. Molecular testing revealed that in these patients the SCA6/CACNL1A4 gene carries the smallest known expanded CAG repeat (21 repeat units). The clinical features of these patients exhibi...
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| Veröffentlicht in: | Journal of the neurological sciences 1998-06, Vol.158 (2), p.141-147 |
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| container_title | Journal of the neurological sciences |
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| creator | Takiyama, Yoshihisa Sakoe, Kumi Namekawa, Michito Soutome, Michiyo Esumi, Eisaku Ogawa, Tomoko Ishikawa, Kin-ya Mizusawa, Hidehiro Nakano, Imaharu Nishizawa, Masatoyo |
| description | We describe a Japanese family which includes 13 patients in five generations who have dominantly inherited ataxia. Molecular testing revealed that in these patients the
SCA6/CACNL1A4 gene carries the smallest known expanded CAG repeat (21 repeat units). The clinical features of these patients exhibited predominantly cerebellar ataxia with onset late in adult life and a very slowly progressive disease course. In addition, this SCA6 family showed some characteristic clinical and genetic features, including (1) apparent lack of genetic anticipation, with an intergenerationally stable CAG repeat size and (2) down-beat nystagmus and diabetes mellitus in some of the SCA6 patients. We identified three individuals homozygous for an expanded CAG repeat (21/21) in the
SCA6/CACNL1A4 gene, two of whom were symptomatic. There were no apparent differences in clinical phenotype between the individuals homozygous and those heterozygous for an expanded CAG repeat in the
SCA6/CACNL1A4 gene. |
| doi_str_mv | 10.1016/S0022-510X(98)00108-7 |
| format | Article |
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SCA6/CACNL1A4 gene carries the smallest known expanded CAG repeat (21 repeat units). The clinical features of these patients exhibited predominantly cerebellar ataxia with onset late in adult life and a very slowly progressive disease course. In addition, this SCA6 family showed some characteristic clinical and genetic features, including (1) apparent lack of genetic anticipation, with an intergenerationally stable CAG repeat size and (2) down-beat nystagmus and diabetes mellitus in some of the SCA6 patients. We identified three individuals homozygous for an expanded CAG repeat (21/21) in the
SCA6/CACNL1A4 gene, two of whom were symptomatic. There were no apparent differences in clinical phenotype between the individuals homozygous and those heterozygous for an expanded CAG repeat in the
SCA6/CACNL1A4 gene.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/S0022-510X(98)00108-7</identifier><identifier>PMID: 9702684</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Aged ; Aged, 80 and over ; Anticipation ; Base Sequence ; Biological and medical sciences ; Brain - pathology ; CAG repeats ; Calcium Channels - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Down-beat nystagmus ; Female ; Homozygote ; Humans ; Japan ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Neurology ; Pedigree ; Repetitive Sequences, Nucleic Acid ; Spinocerebellar Degenerations - classification ; Spinocerebellar Degenerations - diagnosis ; Spinocerebellar Degenerations - genetics ; The SCA6/CACNL1A4 gene</subject><ispartof>Journal of the neurological sciences, 1998-06, Vol.158 (2), p.141-147</ispartof><rights>1998 Elsevier Science B.V.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-fce8e68658abdf534575d53a0bff572d36f55731a33595e137cd4fa7f1e502643</citedby><cites>FETCH-LOGICAL-c389t-fce8e68658abdf534575d53a0bff572d36f55731a33595e137cd4fa7f1e502643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022510X98001087$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2330131$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9702684$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Takiyama, Yoshihisa</creatorcontrib><creatorcontrib>Sakoe, Kumi</creatorcontrib><creatorcontrib>Namekawa, Michito</creatorcontrib><creatorcontrib>Soutome, Michiyo</creatorcontrib><creatorcontrib>Esumi, Eisaku</creatorcontrib><creatorcontrib>Ogawa, Tomoko</creatorcontrib><creatorcontrib>Ishikawa, Kin-ya</creatorcontrib><creatorcontrib>Mizusawa, Hidehiro</creatorcontrib><creatorcontrib>Nakano, Imaharu</creatorcontrib><creatorcontrib>Nishizawa, Masatoyo</creatorcontrib><title>A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>We describe a Japanese family which includes 13 patients in five generations who have dominantly inherited ataxia. Molecular testing revealed that in these patients the
SCA6/CACNL1A4 gene carries the smallest known expanded CAG repeat (21 repeat units). The clinical features of these patients exhibited predominantly cerebellar ataxia with onset late in adult life and a very slowly progressive disease course. In addition, this SCA6 family showed some characteristic clinical and genetic features, including (1) apparent lack of genetic anticipation, with an intergenerationally stable CAG repeat size and (2) down-beat nystagmus and diabetes mellitus in some of the SCA6 patients. We identified three individuals homozygous for an expanded CAG repeat (21/21) in the
SCA6/CACNL1A4 gene, two of whom were symptomatic. There were no apparent differences in clinical phenotype between the individuals homozygous and those heterozygous for an expanded CAG repeat in the
SCA6/CACNL1A4 gene.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Anticipation</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>CAG repeats</subject><subject>Calcium Channels - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Down-beat nystagmus</subject><subject>Female</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Japan</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>Spinocerebellar Degenerations - classification</subject><subject>Spinocerebellar Degenerations - diagnosis</subject><subject>Spinocerebellar Degenerations - genetics</subject><subject>The SCA6/CACNL1A4 gene</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1u1DAUhS0EKsPAI1TyAqGyCLXjOHZWKIqgBY1gUZDYWR77ujHKH3bSdngP3reezmi2rCzrfuf-nIPQOSUfKKHl5Q0heZ5xSn5dVPI9IZTITDxDKyqFzLiU7DlanZCX6FWMvwkhpZTVGTqrBMlLWazQvxp_1ZMeIAJ2uvfdDt_7ucVx8sNoIMAWuk4HrGf94DWedxPgEt-33rTYD6ZbLEQ8twEgfa2_83bRXcTt2I9_d7fjErEbk3rA8JCmWLC4qa9wgAn0nBRJCvimqcvLpm6-bWhd4FsY4DV64VIbeHN81-jn508_muts8_3qS1NvMsNkNWfOgIRSllzqrXWcFVxwy5kmW-e4yC0rHeeCUc0YrzhQJowtnBaOAk_3F2yN3h36TmH8s0CcVe-j2V88QNpdCSY5KXOeQH4ATRhjDODUFHyvw05RovZxqKc41N5rVUn1FEeSr9H5ccCy7cGeVEf_U_3tsa6j0Z0LejA-nrCcMUIZTdjHAwbJjDsPQUXjYTBgfQAzKzv6_yzyCKekpzw</recordid><startdate>19980630</startdate><enddate>19980630</enddate><creator>Takiyama, Yoshihisa</creator><creator>Sakoe, Kumi</creator><creator>Namekawa, Michito</creator><creator>Soutome, Michiyo</creator><creator>Esumi, Eisaku</creator><creator>Ogawa, Tomoko</creator><creator>Ishikawa, Kin-ya</creator><creator>Mizusawa, Hidehiro</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>19980630</creationdate><title>A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene</title><author>Takiyama, Yoshihisa ; Sakoe, Kumi ; Namekawa, Michito ; Soutome, Michiyo ; Esumi, Eisaku ; Ogawa, Tomoko ; Ishikawa, Kin-ya ; Mizusawa, Hidehiro ; Nakano, Imaharu ; Nishizawa, Masatoyo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-fce8e68658abdf534575d53a0bff572d36f55731a33595e137cd4fa7f1e502643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Anticipation</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>CAG repeats</topic><topic>Calcium Channels - genetics</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Down-beat nystagmus</topic><topic>Female</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Japan</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>Spinocerebellar Degenerations - classification</topic><topic>Spinocerebellar Degenerations - diagnosis</topic><topic>Spinocerebellar Degenerations - genetics</topic><topic>The SCA6/CACNL1A4 gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Takiyama, Yoshihisa</creatorcontrib><creatorcontrib>Sakoe, Kumi</creatorcontrib><creatorcontrib>Namekawa, Michito</creatorcontrib><creatorcontrib>Soutome, Michiyo</creatorcontrib><creatorcontrib>Esumi, Eisaku</creatorcontrib><creatorcontrib>Ogawa, Tomoko</creatorcontrib><creatorcontrib>Ishikawa, Kin-ya</creatorcontrib><creatorcontrib>Mizusawa, Hidehiro</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>Takiyama, Yoshihisa</au><au>Sakoe, Kumi</au><au>Namekawa, Michito</au><au>Soutome, Michiyo</au><au>Esumi, Eisaku</au><au>Ogawa, Tomoko</au><au>Ishikawa, Kin-ya</au><au>Mizusawa, Hidehiro</au><au>Nakano, Imaharu</au><au>Nishizawa, Masatoyo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1998-06-30</date><risdate>1998</risdate><volume>158</volume><issue>2</issue><spage>141</spage><epage>147</epage><pages>141-147</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>We describe a Japanese family which includes 13 patients in five generations who have dominantly inherited ataxia. Molecular testing revealed that in these patients the
SCA6/CACNL1A4 gene carries the smallest known expanded CAG repeat (21 repeat units). The clinical features of these patients exhibited predominantly cerebellar ataxia with onset late in adult life and a very slowly progressive disease course. In addition, this SCA6 family showed some characteristic clinical and genetic features, including (1) apparent lack of genetic anticipation, with an intergenerationally stable CAG repeat size and (2) down-beat nystagmus and diabetes mellitus in some of the SCA6 patients. We identified three individuals homozygous for an expanded CAG repeat (21/21) in the
SCA6/CACNL1A4 gene, two of whom were symptomatic. There were no apparent differences in clinical phenotype between the individuals homozygous and those heterozygous for an expanded CAG repeat in the
SCA6/CACNL1A4 gene.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>9702684</pmid><doi>10.1016/S0022-510X(98)00108-7</doi><tpages>7</tpages></addata></record> |
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| ispartof | Journal of the neurological sciences, 1998-06, Vol.158 (2), p.141-147 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Aged Aged, 80 and over Anticipation Base Sequence Biological and medical sciences Brain - pathology CAG repeats Calcium Channels - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Down-beat nystagmus Female Homozygote Humans Japan Magnetic Resonance Imaging Male Medical sciences Middle Aged Neurology Pedigree Repetitive Sequences, Nucleic Acid Spinocerebellar Degenerations - classification Spinocerebellar Degenerations - diagnosis Spinocerebellar Degenerations - genetics The SCA6/CACNL1A4 gene |
| title | A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene |
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