MovDisordV3, Main, Merge, bibRecord, 006466

Familial essential tremor is not associated with SCA‐12 mutation in southern Italy

Identifieur interne : 006466 ( Main/Merge ); précédent : 006465; suivant : 006467

Familial 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.

RBID : ISTEX:F360D2408740528C6E189E40F79565CA8F3A9B7D

Descripteurs français

Wicri :
- geographic : Italie.

English descriptors

KwdEn :
- Alleles, Chromosomes, Human, Pair 5, DNA Mutational Analysis, Essential Tremor (diagnosis), Essential Tremor (genetics), Female, Genetics, Population, Humans, Italy, Male, Phosphoprotein Phosphatases (genetics), Point Mutation (genetics), Protein Phosphatase 2, SCA‐12, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), 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:

https://api.istex.fr/document/F360D2408740528C6E189E40F79565CA8F3A9B7D/fulltext/pdf

DOI: 10.1002/mds.10191

Links to Exploration step

ISTEX:F360D2408740528C6E189E40F79565CA8F3A9B7D

Le document en format XML

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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002" type="published">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Chromosomes, Human, Pair 5</term>
<term>DNA Mutational Analysis</term>
<term>Essential Tremor (diagnosis)</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Genetics, Population</term>
<term>Humans</term>
<term>Italy</term>
<term>Male</term>
<term>Phosphoprotein Phosphatases (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Protein Phosphatase 2</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Trinucleotide Repeats (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphoprotein Phosphatases</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term>
<term>Protein Phosphatase 2</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<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>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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.</div>
</front>
</TEI>
</PubMed>
</double>
</record>

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Movement Disorders (revue)

Familial essential tremor is not associated with SCA‐12 mutation in southern Italy

Familial essential tremor is not associated with SCA‐12 mutation in southern Italy

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	Movement Disorders (revue)
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