Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
Identifieur interne : 002F87 ( PubMed/Curation ); précédent : 002F86; suivant : 002F88Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
Auteurs : Chiara Criscuolo [Italie] ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José BercianoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Heat-Shock Proteins.
- geographic : Spain.
- complications : Ataxia, Muscle Spasticity.
- genetics : Ataxia, Chromosome Disorders, Genes, Recessive, Mutation, Missense, Point Mutation.
- Adult, Electromyography, Humans, Male.
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.
DOI: 10.1002/mds.20579
PubMed: 16007637
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Pietro" uniqKey="Mancini P" first="Pietro" last="Mancini">Pietro Mancini</name></author><author><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name></author><author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name></author><author><name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="Garcia">Antonio Garcia</name></author><author><name sortKey="Banfi, Sandro" sort="Banfi, Sandro" uniqKey="Banfi S" first="Sandro" last="Banfi">Sandro Banfi</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name></author><author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name></author></titleStmt><publicationStmt><idno 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first="Francesco" last="Saccà">Francesco Saccà</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author><author><name sortKey="Mancini, Pietro" sort="Mancini, Pietro" uniqKey="Mancini P" first="Pietro" last="Mancini">Pietro Mancini</name></author><author><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name></author><author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name></author><author><name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="Garcia">Antonio Garcia</name></author><author><name sortKey="Banfi, Sandro" sort="Banfi, Sandro" uniqKey="Banfi S" first="Sandro" last="Banfi">Sandro Banfi</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name></author><author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia (complications)</term><term>Ataxia (genetics)</term><term>Chromosome Disorders (genetics)</term><term>Electromyography</term><term>Genes, Recessive (genetics)</term><term>Heat-Shock Proteins (genetics)</term><term>Humans</term><term>Male</term><term>Muscle Spasticity (complications)</term><term>Mutation, Missense (genetics)</term><term>Point Mutation (genetics)</term><term>Spain</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Heat-Shock Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term><term>Muscle Spasticity</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Chromosome Disorders</term><term>Genes, Recessive</term><term>Mutation, Missense</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Electromyography</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16007637</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>02</Month><Day>16</Day></DateCompleted><DateRevised><Year>2014</Year><Month>03</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>10</Issue><PubDate><Year>2005</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.</ArticleTitle><Pagination><MedlinePgn>1358-61</MedlinePgn></Pagination><Abstract><AbstractText>Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.</AbstractText><CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Criscuolo</LastName><ForeName>Chiara</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saccà</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>De Michele</LastName><ForeName>Giuseppe</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Mancini</LastName><ForeName>Pietro</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Combarros</LastName><ForeName>Onofre</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Infante</LastName><ForeName>Jon</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Garcia</LastName><ForeName>Antonio</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Banfi</LastName><ForeName>Sandro</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Filla</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Berciano</LastName><ForeName>José</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>TGM03P14</GrantID><Agency>Telethon</Agency><Country>Italy</Country></Grant><Grant><GrantID>TGM06S01</GrantID><Agency>Telethon</Agency><Country>Italy</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D006360">Heat-Shock Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C404403">SACS protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D025063">Chromosome Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005808">Genes, Recessive</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006360">Heat-Shock Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009128">Muscle Spasticity</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D013030">Spain</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>7</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>2</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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