Familial essential tremor is not associated with SCA‐12 mutation in southern Italy
Identifieur interne : 004461 ( Main/Exploration ); précédent : 004460; suivant : 004462Familial essential tremor is not associated with SCA‐12 mutation in southern Italy
Auteurs : Giuseppe Nicoletti [Italie] ; Grazia Annesi [Italie] ; Sara Carrideo [Italie] ; Carmine Tomaino [Italie] ; Alfonso Di Costanzo [Italie] ; Mario Zappia [Italie] ; Aldo Quattrone [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Allele, Alleles, Chromosomes, Human, Pair 5, DNA Mutational Analysis, Essential, Essential Tremor (diagnosis), Essential Tremor (genetics), Female, Genetic determinism, Genetics, Population, Human, Humans, Italy, Male, Mutation, Phosphoprotein Phosphatases (genetics), Point Mutation (genetics), Protein Phosphatase 2, SCA‐12, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Tremor, Trinucleotide Repeats (genetics), essential tremor, point mutation studies.
- MESH :
- chemical , genetics : Phosphoprotein Phosphatases.
- geographic : Italy, Protein Phosphatase 2.
- diagnosis : Essential Tremor, Spinocerebellar Ataxias.
- genetics : Essential Tremor, Point Mutation, Spinocerebellar Ataxias, Trinucleotide Repeats.
- Alleles, Chromosomes, Human, Pair 5, DNA Mutational Analysis, Female, Genetics, Population, Humans, Male.
Abstract
We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA‐12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA‐12 are distinct diseases. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10191
Affiliations:
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term>
<term>Alleles</term>
<term>Chromosomes, Human, Pair 5</term>
<term>DNA Mutational Analysis</term>
<term>Essential</term>
<term>Essential Tremor (diagnosis)</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Genetic determinism</term>
<term>Genetics, Population</term>
<term>Human</term>
<term>Humans</term>
<term>Italy</term>
<term>Male</term>
<term>Mutation</term>
<term>Phosphoprotein Phosphatases (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Protein Phosphatase 2</term>
<term>SCA‐12</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>Tremor</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>essential tremor</term>
<term>point mutation studies</term>
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<term>Protein Phosphatase 2</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term>
<term>Spinocerebellar Ataxias</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term>
<term>Point Mutation</term>
<term>Spinocerebellar Ataxias</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Chromosomes, Human, Pair 5</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetics, Population</term>
<term>Humans</term>
<term>Male</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Allèle</term>
<term>Ataxie spinocérébelleuse</term>
<term>Déterminisme génétique</term>
<term>Essentiel</term>
<term>Gène SCA-12</term>
<term>Homme</term>
<term>Italie</term>
<term>Mutation</term>
<term>Tremblement</term>
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<front><div type="abstract" xml:lang="fr">We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA‐12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA‐12 are distinct diseases. © 2002 Movement Disorder Society</div>
</front>
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<affiliations><list><country><li>Italie</li>
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<tree><country name="Italie"><noRegion><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
</noRegion>
<name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
<name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
<name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
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