Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Identifieur interne : 001757 ( PubMed/Corpus ); précédent : 001756; suivant : 001758Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Auteurs : Alessandro Brussino ; Claudio Graziano ; Dario Giobbe ; Marina Ferrone ; Elisa Dragone ; Carlo Arduino ; Raffaele Lodi ; Caterina Tonon ; Anna Gabellini ; Rita Rinaldi ; Sara Miccoli ; Enrico Grosso ; Maria Cristina Bellati ; Laura Orsi ; Nicola Migone ; Alfredo BruscoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Ataxia (physiopathology), Family Health, Female, Humans, Italy, Magnetic Resonance Imaging (methods), Male, Middle Aged, Nerve Tissue Proteins (genetics), Positron-Emission Tomography (methods), Protein Phosphatase 2 (genetics), Protons (diagnostic use), Retrospective Studies, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Trinucleotide Repeat Expansion (genetics), Young Adult.
- MESH :
- chemical , diagnostic use : Protons.
- chemical , genetics : Nerve Tissue Proteins, Protein Phosphatase 2.
- geographic : Italy.
- diagnosis : Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- methods : Magnetic Resonance Imaging, Positron-Emission Tomography.
- physiopathology : Ataxia.
- Adolescent, Adult, Aged, Family Health, Female, Humans, Male, Middle Aged, Retrospective Studies, Young Adult.
Abstract
SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.
DOI: 10.1002/mds.22835
PubMed: 20629122
Links to Exploration step
pubmed:20629122Le document en format XML
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San Giovanni Battista, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name></author><author><name sortKey="Giobbe, Dario" sort="Giobbe, Dario" uniqKey="Giobbe D" first="Dario" last="Giobbe">Dario Giobbe</name></author><author><name sortKey="Ferrone, Marina" sort="Ferrone, Marina" uniqKey="Ferrone M" first="Marina" last="Ferrone">Marina Ferrone</name></author><author><name sortKey="Dragone, Elisa" sort="Dragone, Elisa" uniqKey="Dragone E" first="Elisa" last="Dragone">Elisa Dragone</name></author><author><name sortKey="Arduino, Carlo" sort="Arduino, Carlo" uniqKey="Arduino C" first="Carlo" last="Arduino">Carlo Arduino</name></author><author><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name></author><author><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name></author><author><name sortKey="Gabellini, Anna" sort="Gabellini, Anna" uniqKey="Gabellini A" first="Anna" last="Gabellini">Anna Gabellini</name></author><author><name sortKey="Rinaldi, Rita" sort="Rinaldi, Rita" uniqKey="Rinaldi R" first="Rita" last="Rinaldi">Rita Rinaldi</name></author><author><name sortKey="Miccoli, Sara" sort="Miccoli, Sara" uniqKey="Miccoli S" first="Sara" last="Miccoli">Sara Miccoli</name></author><author><name sortKey="Grosso, Enrico" sort="Grosso, Enrico" uniqKey="Grosso E" first="Enrico" last="Grosso">Enrico Grosso</name></author><author><name sortKey="Bellati, Maria Cristina" sort="Bellati, Maria Cristina" uniqKey="Bellati M" first="Maria Cristina" last="Bellati">Maria Cristina Bellati</name></author><author><name sortKey="Orsi, Laura" sort="Orsi, Laura" uniqKey="Orsi L" first="Laura" last="Orsi">Laura Orsi</name></author><author><name sortKey="Migone, Nicola" sort="Migone, Nicola" uniqKey="Migone N" first="Nicola" last="Migone">Nicola Migone</name></author><author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.22835</idno><idno type="RBID">pubmed:20629122</idno><idno type="pmid">20629122</idno><idno type="wicri:Area/PubMed/Corpus">001757</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.</title><author><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name><affiliation><nlm:affiliation>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name></author><author><name sortKey="Giobbe, Dario" sort="Giobbe, Dario" uniqKey="Giobbe D" first="Dario" last="Giobbe">Dario Giobbe</name></author><author><name sortKey="Ferrone, Marina" sort="Ferrone, Marina" uniqKey="Ferrone M" first="Marina" last="Ferrone">Marina Ferrone</name></author><author><name sortKey="Dragone, Elisa" sort="Dragone, Elisa" uniqKey="Dragone E" first="Elisa" last="Dragone">Elisa Dragone</name></author><author><name sortKey="Arduino, Carlo" sort="Arduino, Carlo" uniqKey="Arduino C" first="Carlo" last="Arduino">Carlo Arduino</name></author><author><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name></author><author><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name></author><author><name sortKey="Gabellini, Anna" sort="Gabellini, Anna" uniqKey="Gabellini A" first="Anna" last="Gabellini">Anna Gabellini</name></author><author><name sortKey="Rinaldi, Rita" sort="Rinaldi, Rita" uniqKey="Rinaldi R" first="Rita" last="Rinaldi">Rita Rinaldi</name></author><author><name sortKey="Miccoli, Sara" sort="Miccoli, Sara" uniqKey="Miccoli S" first="Sara" last="Miccoli">Sara Miccoli</name></author><author><name sortKey="Grosso, Enrico" sort="Grosso, Enrico" uniqKey="Grosso E" first="Enrico" last="Grosso">Enrico Grosso</name></author><author><name sortKey="Bellati, Maria Cristina" sort="Bellati, Maria Cristina" uniqKey="Bellati M" first="Maria Cristina" last="Bellati">Maria Cristina Bellati</name></author><author><name sortKey="Orsi, Laura" sort="Orsi, Laura" uniqKey="Orsi L" first="Laura" last="Orsi">Laura Orsi</name></author><author><name sortKey="Migone, Nicola" sort="Migone, Nicola" uniqKey="Migone N" first="Nicola" last="Migone">Nicola Migone</name></author><author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Ataxia (physiopathology)</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Italy</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Positron-Emission Tomography (methods)</term><term>Protein Phosphatase 2 (genetics)</term><term>Protons (diagnostic use)</term><term>Retrospective Studies</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Protons</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Protein Phosphatase 2</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Retrospective Studies</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20629122</PMID><DateCreated><Year>2010</Year><Month>07</Month><Day>26</Day></DateCreated><DateCompleted><Year>2010</Year><Month>11</Month><Day>04</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>9</Issue><PubDate><Year>2010</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.</ArticleTitle><Pagination><MedlinePgn>1269-73</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22835</ELocationID><Abstract><AbstractText>SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Brussino</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Graziano</LastName><ForeName>Claudio</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Giobbe</LastName><ForeName>Dario</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Ferrone</LastName><ForeName>Marina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Dragone</LastName><ForeName>Elisa</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Arduino</LastName><ForeName>Carlo</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Lodi</LastName><ForeName>Raffaele</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Tonon</LastName><ForeName>Caterina</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Gabellini</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rinaldi</LastName><ForeName>Rita</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Miccoli</LastName><ForeName>Sara</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Grosso</LastName><ForeName>Enrico</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Bellati</LastName><ForeName>Maria Cristina</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Orsi</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Migone</LastName><ForeName>Nicola</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Brusco</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>GGP07110</GrantID><Agency>Telethon</Agency><Country>Italy</Country></Grant></GrantList><PublicationTypeList><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="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011522">Protons</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.16</RegistryNumber><NameOfSubstance UI="C505936">PPP2R2B protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.16</RegistryNumber><NameOfSubstance UI="D054648">Protein Phosphatase 2</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049268">Positron-Emission Tomography</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D054648">Protein Phosphatase 2</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011522">Protons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012189">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>11</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22835</ArticleId><ArticleId IdType="pubmed">20629122</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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