Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation
Identifieur interne : 004042 ( Main/Exploration ); précédent : 004041; suivant : 004043Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation
Auteurs : Louis C. Tan [États-Unis, Singapour] ; Caroline M. Tanner [États-Unis] ; Rong Chen [États-Unis] ; Piu Chan [États-Unis] ; Matthew Farrer [États-Unis] ; John Hardy [États-Unis] ; J. William Langston [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Age Factors, Age of onset, Aged, Base Pairing (genetics), Case study, Chromosome Deletion, DNA Mutational Analysis, Dementia (diagnosis), Dementia (genetics), Diagnosis, Differential, Disease Progression, Disease Susceptibility, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Exons (genetics), Family study, Female, Genetic Testing, Genetic Variation (genetics), Heterozygote Detection, Human, Humans, Male, Middle Aged, Mutation, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinsonism, Pedigree, Phenotype, Symptomatology, Ubiquitin-Protein Ligases (genetics), dystonia–parkinsonism, heterozygous mutation, parkin gene, parkinsonism.
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- diagnosis : Dementia, Dystonic Disorders, Parkinson Disease.
- genetics : Base Pairing, Dementia, Dystonic Disorders, Exons, Genetic Variation, Parkinson Disease.
- Adult, Age Factors, Aged, Chromosome Deletion, DNA Mutational Analysis, Diagnosis, Differential, Disease Progression, Disease Susceptibility, Female, Genetic Testing, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
Abstract
Parkin gene mutations have been detected in families with early‐onset autosomal recessive parkinsonism. We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family. After identifying the new mutation in the proband of this kindred, family members were contacted and evaluated by a movement disorders specialist using standardized protocols and prospectively set diagnostic criteria. Importantly, examining physicians and family members were blinded to the genetic testing. Five affected members in two generations carried the parkin mutation. The proband and one of his brothers had disease onset at 24 years of age while another brother had disease at age 44. One exhibited multi‐focal dystonia and parkinsonism of 17 years duration, another suffered a unilateral slowly progressive parkinsonism over 13 years while the third suffered dystonia–parkinsonism of recent onset. A sibling pair in the preceding generation had mild previously undiagnosed parkinsonism. Clinicians should be aware that patients carrying a parkin gene mutation may present with dystonia–parkinsonism or very subtle parkinsonism with a markedly varied age of onset. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10432
Affiliations:
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Tan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Parkinson's Institute, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Singapour</country><wicri:regionArea>Current Address: National Neuroscience Institute</wicri:regionArea></affiliation></author><author><name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Parkinson's Institute, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Chen, Rong" sort="Chen, Rong" uniqKey="Chen R" first="Rong" last="Chen">Rong Chen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Parkinson's Institute, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Chan, Piu" sort="Chan, Piu" uniqKey="Chan P" first="Piu" last="Chan">Piu Chan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Parkinson's Institute, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Langston, J William" sort="Langston, J William" uniqKey="Langston J" first="J. William" last="Langston">J. William Langston</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Parkinson's Institute, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</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="2003-07">2003-07</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="758">758</biblScope><biblScope unit="page" to="763">763</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0ACE905FDB4336CFB9D9241C13E0E8045F02A4BC</idno><idno type="DOI">10.1002/mds.10432</idno><idno type="ArticleID">MDS10432</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Age of onset</term><term>Aged</term><term>Base Pairing (genetics)</term><term>Case study</term><term>Chromosome Deletion</term><term>DNA Mutational Analysis</term><term>Dementia (diagnosis)</term><term>Dementia (genetics)</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Disease Susceptibility</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Exons (genetics)</term><term>Family study</term><term>Female</term><term>Genetic Testing</term><term>Genetic Variation (genetics)</term><term>Heterozygote Detection</term><term>Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Neurologic Examination</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonism</term><term>Pedigree</term><term>Phenotype</term><term>Symptomatology</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>dystonia–parkinsonism</term><term>heterozygous mutation</term><term>parkin gene</term><term>parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dementia</term><term>Dystonic Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Base Pairing</term><term>Dementia</term><term>Dystonic Disorders</term><term>Exons</term><term>Genetic Variation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Chromosome Deletion</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Disease Susceptibility</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><keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term><term>Etude cas</term><term>Etude familiale</term><term>Homme</term><term>Mutation</term><term>Parkinsonisme</term><term>Symptomatologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkin gene mutations have been detected in families with early‐onset autosomal recessive parkinsonism. We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family. After identifying the new mutation in the proband of this kindred, family members were contacted and evaluated by a movement disorders specialist using standardized protocols and prospectively set diagnostic criteria. Importantly, examining physicians and family members were blinded to the genetic testing. Five affected members in two generations carried the parkin mutation. The proband and one of his brothers had disease onset at 24 years of age while another brother had disease at age 44. One exhibited multi‐focal dystonia and parkinsonism of 17 years duration, another suffered a unilateral slowly progressive parkinsonism over 13 years while the third suffered dystonia–parkinsonism of recent onset. A sibling pair in the preceding generation had mild previously undiagnosed parkinsonism. Clinicians should be aware that patients carrying a parkin gene mutation may present with dystonia–parkinsonism or very subtle parkinsonism with a markedly varied age of onset. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Singapour</li><li>États-Unis</li></country><region><li>Californie</li><li>Floride</li></region></list><tree><country name="États-Unis"><region name="Californie"><name sortKey="Tan, Louis C" sort="Tan, Louis C" uniqKey="Tan L" first="Louis C." last="Tan">Louis C. Tan</name></region><name sortKey="Chan, Piu" sort="Chan, Piu" uniqKey="Chan P" first="Piu" last="Chan">Piu Chan</name><name sortKey="Chen, Rong" sort="Chen, Rong" uniqKey="Chen R" first="Rong" last="Chen">Rong Chen</name><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Langston, J William" sort="Langston, J William" uniqKey="Langston J" first="J. William" last="Langston">J. William Langston</name><name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name></country><country name="Singapour"><noRegion><name sortKey="Tan, Louis C" sort="Tan, Louis C" uniqKey="Tan L" first="Louis C." last="Tan">Louis C. Tan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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