Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
Identifieur interne : 001995 ( Main/Exploration ); précédent : 001994; suivant : 001996Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
Auteurs : Alessandro Brussino [Italie] ; Claudio Graziano [Italie] ; Dario Giobbe [Italie] ; Marina Ferrone [Italie] ; Elisa Dragone [Italie] ; Carlo Arduino [Italie] ; Raffaele Lodi [Italie] ; Caterina Tonon [Italie] ; Anna Gabellini [Italie] ; Rita Rinaldi [Italie] ; Sara Miccoli [Italie] ; Enrico Grosso [Italie] ; Maria Cristina Bellati [Italie] ; Laura Orsi [Italie] ; Nicola Migone [Italie] ; Alfredo Brusco [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-07-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Ataxia (physiopathology), CAG repeat, Family Health, Female, Humans, Italian, Italy, Magnetic Resonance Imaging (methods), Male, Middle Aged, Mimic, Nerve Tissue Proteins (genetics), Nervous system diseases, PPP2R2B gene, Positron-Emission Tomography (methods), Protein Phosphatase 2 (genetics), Protons (diagnostic use), Retrospective Studies, SCA12, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Sporadic, Trinucleotide Repeat Expansion (genetics), Young Adult, spinocerebellar ataxia.
- 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 ≥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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.22835
Affiliations:
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Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>U.O. Medical Genetics, S. Orsola‐Malpighi Hospital, and Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna</wicri:regionArea><wicri:noRegion>University of Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Giobbe, Dario" sort="Giobbe, Dario" uniqKey="Giobbe D" first="Dario" last="Giobbe">Dario Giobbe</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurology III, A.O.U. San Giovanni Battista, and Department of Neurosciences, University of Torino, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Ferrone, Marina" sort="Ferrone, Marina" uniqKey="Ferrone M" first="Marina" last="Ferrone">Marina Ferrone</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Dragone, Elisa" sort="Dragone, Elisa" uniqKey="Dragone E" first="Elisa" last="Dragone">Elisa Dragone</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Arduino, Carlo" sort="Arduino, Carlo" uniqKey="Arduino C" first="Carlo" last="Arduino">Carlo Arduino</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Gabellini, Anna" sort="Gabellini, Anna" uniqKey="Gabellini A" first="Anna" last="Gabellini">Anna Gabellini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Neurology, S. Orsola‐Malpighi Hospital, University of Bologna</wicri:regionArea><wicri:noRegion>University of Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Rinaldi, Rita" sort="Rinaldi, Rita" uniqKey="Rinaldi R" first="Rita" last="Rinaldi">Rita Rinaldi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Neurology, S. Orsola‐Malpighi Hospital, University of Bologna</wicri:regionArea><wicri:noRegion>University of Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Miccoli, Sara" sort="Miccoli, Sara" uniqKey="Miccoli S" first="Sara" last="Miccoli">Sara Miccoli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>U.O. Medical Genetics, S. Orsola‐Malpighi Hospital, and Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna</wicri:regionArea><wicri:noRegion>University of Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Grosso, Enrico" sort="Grosso, Enrico" uniqKey="Grosso E" first="Enrico" last="Grosso">Enrico Grosso</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Bellati, Maria Cristina" sort="Bellati, Maria Cristina" uniqKey="Bellati M" first="Maria Cristina" last="Bellati">Maria Cristina Bellati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Orsi, Laura" sort="Orsi, Laura" uniqKey="Orsi L" first="Laura" last="Orsi">Laura Orsi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>A.O.U. San Giovanni Battista, Department of Neurosciences, Neurology II, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Migone, Nicola" sort="Migone, Nicola" uniqKey="Migone N" first="Nicola" last="Migone">Nicola Migone</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-07-15">2010-07-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1269">1269</biblScope><biblScope unit="page" to="1273">1273</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8D102CA1A5D6CCB43B14666F5ABE4F4B22D2F1F7</idno><idno type="DOI">10.1002/mds.22835</idno><idno type="ArticleID">MDS22835</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Ataxia (physiopathology)</term><term>CAG repeat</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Italian</term><term>Italy</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Middle Aged</term><term>Mimic</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>PPP2R2B gene</term><term>Positron-Emission Tomography (methods)</term><term>Protein Phosphatase 2 (genetics)</term><term>Protons (diagnostic use)</term><term>Retrospective Studies</term><term>SCA12</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Sporadic</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term><term>spinocerebellar ataxia</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><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Italien</term><term>Mime</term><term>Pathologie du système nerveux</term><term>Sporadique</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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 ≥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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Piémont</li></region><settlement><li>Turin</li></settlement></list><tree><country name="Italie"><region name="Piémont"><name sortKey="Brussino, Alessandro" sort="Brussino, Alessandro" uniqKey="Brussino A" first="Alessandro" last="Brussino">Alessandro Brussino</name></region><name sortKey="Arduino, Carlo" sort="Arduino, Carlo" uniqKey="Arduino C" first="Carlo" last="Arduino">Carlo Arduino</name><name sortKey="Bellati, Maria Cristina" sort="Bellati, Maria Cristina" uniqKey="Bellati M" first="Maria Cristina" last="Bellati">Maria Cristina Bellati</name><name sortKey="Brusco, Alfredo" sort="Brusco, Alfredo" uniqKey="Brusco A" first="Alfredo" last="Brusco">Alfredo Brusco</name><name sortKey="Dragone, Elisa" sort="Dragone, Elisa" uniqKey="Dragone E" first="Elisa" last="Dragone">Elisa Dragone</name><name sortKey="Ferrone, Marina" sort="Ferrone, Marina" uniqKey="Ferrone M" first="Marina" last="Ferrone">Marina Ferrone</name><name sortKey="Gabellini, Anna" sort="Gabellini, Anna" uniqKey="Gabellini A" first="Anna" last="Gabellini">Anna Gabellini</name><name sortKey="Giobbe, Dario" sort="Giobbe, Dario" uniqKey="Giobbe D" first="Dario" last="Giobbe">Dario Giobbe</name><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name><name sortKey="Grosso, Enrico" sort="Grosso, Enrico" uniqKey="Grosso E" first="Enrico" last="Grosso">Enrico Grosso</name><name sortKey="Lodi, Raffaele" sort="Lodi, Raffaele" uniqKey="Lodi R" first="Raffaele" last="Lodi">Raffaele Lodi</name><name sortKey="Miccoli, Sara" sort="Miccoli, Sara" uniqKey="Miccoli S" first="Sara" last="Miccoli">Sara Miccoli</name><name sortKey="Migone, Nicola" sort="Migone, Nicola" uniqKey="Migone N" first="Nicola" last="Migone">Nicola Migone</name><name sortKey="Orsi, Laura" sort="Orsi, Laura" uniqKey="Orsi L" first="Laura" last="Orsi">Laura Orsi</name><name sortKey="Rinaldi, Rita" sort="Rinaldi, Rita" uniqKey="Rinaldi R" first="Rita" last="Rinaldi">Rita Rinaldi</name><name sortKey="Tonon, Caterina" sort="Tonon, Caterina" uniqKey="Tonon C" first="Caterina" last="Tonon">Caterina Tonon</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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