Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype
We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado‐Joseph Disease/ Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurolo...
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| Veröffentlicht in: | Annals of neurology 2001-06, Vol.49 (6), p.805-808 |
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| container_issue | 6 |
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| container_title | Annals of neurology |
| container_volume | 49 |
| creator | Van Alfen, Nens Sinke, Richard J. Zwarts, Michael J. Gabreëls-Festen, Anneke Praamstra, Peter Kremer, Berry P.H. Horstink, Martin W.I.M. |
| description | We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado‐Joseph Disease/ Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder. |
| doi_str_mv | 10.1002/ana.1089 |
| format | Article |
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All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.1089</identifier><identifier>PMID: 11409435</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Aged ; Ataxin-3 ; Biological and medical sciences ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Hereditary Sensory and Motor Neuropathy - complications ; Hereditary Sensory and Motor Neuropathy - genetics ; Hereditary Sensory and Motor Neuropathy - physiopathology ; Humans ; Machado-Joseph Disease - complications ; Machado-Joseph Disease - genetics ; Machado-Joseph Disease - physiopathology ; Male ; Medical sciences ; Middle Aged ; Nerve Tissue Proteins - genetics ; Netherlands ; Neurology ; Nuclear Proteins ; Pedigree ; Phenotype ; Repressor Proteins ; Restless Legs Syndrome - complications ; Restless Legs Syndrome - genetics ; Restless Legs Syndrome - physiopathology ; Trinucleotide Repeat Expansion - genetics</subject><ispartof>Annals of neurology, 2001-06, Vol.49 (6), p.805-808</ispartof><rights>Copyright © 2001 Wiley‐Liss, Inc.</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3519-bfef2b0e6b7d292ccdd0f76b1969b3984906c259ee0a8e10ecfc18e1b4fd6fff3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.1089$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.1089$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1006732$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11409435$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Alfen, Nens</creatorcontrib><creatorcontrib>Sinke, Richard J.</creatorcontrib><creatorcontrib>Zwarts, Michael J.</creatorcontrib><creatorcontrib>Gabreëls-Festen, Anneke</creatorcontrib><creatorcontrib>Praamstra, Peter</creatorcontrib><creatorcontrib>Kremer, Berry P.H.</creatorcontrib><creatorcontrib>Horstink, Martin W.I.M.</creatorcontrib><title>Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado‐Joseph Disease/ Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder.</description><subject>Aged</subject><subject>Ataxin-3</subject><subject>Biological and medical sciences</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Hereditary Sensory and Motor Neuropathy - complications</subject><subject>Hereditary Sensory and Motor Neuropathy - genetics</subject><subject>Hereditary Sensory and Motor Neuropathy - physiopathology</subject><subject>Humans</subject><subject>Machado-Joseph Disease - complications</subject><subject>Machado-Joseph Disease - genetics</subject><subject>Machado-Joseph Disease - physiopathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Netherlands</subject><subject>Neurology</subject><subject>Nuclear Proteins</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Repressor Proteins</subject><subject>Restless Legs Syndrome - complications</subject><subject>Restless Legs Syndrome - genetics</subject><subject>Restless Legs Syndrome - physiopathology</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpN0V9r1EAQAPClKPZaBT-B7INIC8bOZrPJ7WOI7VnpP2hF8MFlspn1orkk7uZo79u7R0_r0wzMbwZmhrHXAj4IgPQEe4zJXO-xmVBSJPM008_YDGSeJUrIbJ8dhPATAHQu4AXbFyIDnUk1Y9_P-4n8ipoWJ-JVueCeRsKJd9T_mJaBHyn5XmXH3A2eX37-eHJblZKjJ44hDHbb1fD7dlpy7DnW_eBX2PFxSf0wbUZ6yZ477AK92sVD9uXs9K76lFxcL86r8iKxUgmd1I5cWgPlddGkOrW2acAVeS10rmup55mG3KZKEwHOSQBZZ0VM6sw1uXNOHrJ3j3NHP_xeU5jMqg2Wug57GtbBFHFdoQoZ4ZsdXNdxazP6doV-Y_5eJIK3O4DBYuc89rYNTw4gL2QaWfLI7tuONv-VtyI18SFm-xBTXpXb-OTbMNHDP4_-l4nzCmW-Xi3MzaWo4FZ_M1L-AYvaiiw</recordid><startdate>200106</startdate><enddate>200106</enddate><creator>Van Alfen, Nens</creator><creator>Sinke, Richard J.</creator><creator>Zwarts, Michael J.</creator><creator>Gabreëls-Festen, Anneke</creator><creator>Praamstra, Peter</creator><creator>Kremer, Berry P.H.</creator><creator>Horstink, Martin W.I.M.</creator><general>John Wiley & Sons, Inc</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200106</creationdate><title>Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype</title><author>Van Alfen, Nens ; Sinke, Richard J. ; Zwarts, Michael J. ; Gabreëls-Festen, Anneke ; Praamstra, Peter ; Kremer, Berry P.H. ; Horstink, Martin W.I.M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3519-bfef2b0e6b7d292ccdd0f76b1969b3984906c259ee0a8e10ecfc18e1b4fd6fff3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Aged</topic><topic>Ataxin-3</topic><topic>Biological and medical sciences</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Hereditary Sensory and Motor Neuropathy - complications</topic><topic>Hereditary Sensory and Motor Neuropathy - genetics</topic><topic>Hereditary Sensory and Motor Neuropathy - physiopathology</topic><topic>Humans</topic><topic>Machado-Joseph Disease - complications</topic><topic>Machado-Joseph Disease - genetics</topic><topic>Machado-Joseph Disease - physiopathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Netherlands</topic><topic>Neurology</topic><topic>Nuclear Proteins</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Repressor Proteins</topic><topic>Restless Legs Syndrome - complications</topic><topic>Restless Legs Syndrome - genetics</topic><topic>Restless Legs Syndrome - physiopathology</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Van Alfen, Nens</creatorcontrib><creatorcontrib>Sinke, Richard J.</creatorcontrib><creatorcontrib>Zwarts, Michael J.</creatorcontrib><creatorcontrib>Gabreëls-Festen, Anneke</creatorcontrib><creatorcontrib>Praamstra, Peter</creatorcontrib><creatorcontrib>Kremer, Berry P.H.</creatorcontrib><creatorcontrib>Horstink, Martin W.I.M.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Van Alfen, Nens</au><au>Sinke, Richard J.</au><au>Zwarts, Michael J.</au><au>Gabreëls-Festen, Anneke</au><au>Praamstra, Peter</au><au>Kremer, Berry P.H.</au><au>Horstink, Martin W.I.M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2001-06</date><risdate>2001</risdate><volume>49</volume><issue>6</issue><spage>805</spage><epage>808</epage><pages>805-808</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado‐Joseph Disease/ Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>11409435</pmid><doi>10.1002/ana.1089</doi><tpages>4</tpages></addata></record> |
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| subjects | Aged Ataxin-3 Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Hereditary Sensory and Motor Neuropathy - complications Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - physiopathology Humans Machado-Joseph Disease - complications Machado-Joseph Disease - genetics Machado-Joseph Disease - physiopathology Male Medical sciences Middle Aged Nerve Tissue Proteins - genetics Netherlands Neurology Nuclear Proteins Pedigree Phenotype Repressor Proteins Restless Legs Syndrome - complications Restless Legs Syndrome - genetics Restless Legs Syndrome - physiopathology Trinucleotide Repeat Expansion - genetics |
| title | Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype |
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