Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome
Identifieur interne : 005676 ( Main/Exploration ); précédent : 005675; suivant : 005677Clinical symptoms and possible anticipation in a large kindred of familial restless legs syndrome
Auteurs : Trenkwalder [Allemagne] ; Victor Collado Seidel [Allemagne] ; Thomas Gasser [Allemagne] ; Wolfgang H. Oertel [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 1996-07.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Aged, Anticipation, Autosomal dominant inheritance, Chromosome Aberrations (genetics), Chromosome Disorders, Familial restless legs syndrome, Female, Genes, Dominant (genetics), Genetic Testing, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Periodic leg movements, Phenotype, Restless Legs Syndrome (diagnosis), Restless Legs Syndrome (genetics).
- MESH :
Abstract
Idiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical symptoms. Patients were examined clinically, and polysomnography was performed in selected cases. The diagnosis was set according to the diagnostic criteria of the International RLS study Group. All patients showed sensory symptoms of their legs and a worsening of symptoms with increasing age. Older patients, who needed treatment, responded well to opioids. Segregation ratios were close to 0.5, confirming a virtually complete penetrance. The mean age of onset fell from 51.5 years in the second generation to 19.8 years in the fourth generation (ANOVA, p=0.025). The identification of presymptomatic carriers in the fourth generation in the following years, however, may prejudice this result. This large family showed the variety of clinical RLS symptoms with decreasing age of onset in generations II‐IV, suggesting at least the possibility of anitcipation.
Url:
DOI: 10.1002/mds.870110407
Affiliations:
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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="1996-07">1996-07</date><biblScope unit="vol">11</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="389">389</biblScope><biblScope unit="page" to="394">394</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B91DE98C18BC9AD2090F59A9A9FD894777DEA345</idno><idno type="DOI">10.1002/mds.870110407</idno><idno type="ArticleID">MDS870110407</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>Age Factors</term><term>Aged</term><term>Anticipation</term><term>Autosomal dominant inheritance</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Familial restless legs syndrome</term><term>Female</term><term>Genes, Dominant (genetics)</term><term>Genetic Testing</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Periodic leg movements</term><term>Phenotype</term><term>Restless Legs Syndrome (diagnosis)</term><term>Restless Legs Syndrome (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Genes, Dominant</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Chromosome Disorders</term><term>Female</term><term>Genetic Testing</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Idiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical symptoms. Patients were examined clinically, and polysomnography was performed in selected cases. The diagnosis was set according to the diagnostic criteria of the International RLS study Group. All patients showed sensory symptoms of their legs and a worsening of symptoms with increasing age. Older patients, who needed treatment, responded well to opioids. Segregation ratios were close to 0.5, confirming a virtually complete penetrance. The mean age of onset fell from 51.5 years in the second generation to 19.8 years in the fourth generation (ANOVA, p=0.025). The identification of presymptomatic carriers in the fourth generation in the following years, however, may prejudice this result. This large family showed the variety of clinical RLS symptoms with decreasing age of onset in generations II‐IV, suggesting at least the possibility of anitcipation.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Trenkwalder" sort="Trenkwalder" uniqKey="Trenkwalder" last="Trenkwalder">Trenkwalder</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><name sortKey="Seidel, Victor Collado" sort="Seidel, Victor Collado" uniqKey="Seidel V" first="Victor Collado" last="Seidel">Victor Collado Seidel</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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