Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder
Identifieur interne : 004994 ( Main/Exploration ); précédent : 004993; suivant : 004995Posterior column ataxia and retinitis pigmentosa: A distinct clinical and genetic disorder
Auteurs : Joseph J. Higgins [États-Unis] ; Kerri Kluetzman [États-Unis] ; Jose Berciano [Espagne] ; Onofre Combarros [Espagne] ; Joseph M. Loveless [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-05.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- AXPC1 locus, Age of onset, Ataxia, Child, Chromosome Aberrations (genetics), Chromosome Disorders, Chromosome Mapping, Consanguinity, Early, Exploration, Family study, Female, Genes, Recessive (genetics), Genetic Linkage (genetics), Genotype, Haplotypes, Human, Human chromosome 1q, Humans, Linkage, Male, Pedigree, Phenotype, Posterior spinal horn, Retinitis Pigmentosa (diagnosis), Retinitis Pigmentosa (genetics), Retinitis pigmentosa, Sensory ataxia, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics).
- MESH :
- diagnosis : Retinitis Pigmentosa, Spinocerebellar Degenerations.
- genetics : Chromosome Aberrations, Genes, Recessive, Genetic Linkage, Retinitis Pigmentosa, Spinocerebellar Degenerations.
- Child, Chromosome Disorders, Chromosome Mapping, Consanguinity, Female, Genotype, Haplotypes, Humans, Male, Pedigree, Phenotype.
Abstract
Autosomal recessive posterior column ataxia and retinitis pigmentosa (PCARP) is a movement disorder that was genetically mapped to a disease locus (AXPC1) on chromosome 1q32‐q31 in an inbred population of Dutch‐German ancestry in the continental United States. We performed genetic linkage analysis and haplotype reconstruction on a different family from Spain with an identical phenotype to determine if the neurologic signs of an early‐onset ataxia, retinitis pigmentosa, and a sensory neuropathy also mapped to the AXPC1 locus. The disease phenotype was linked in the candidate interval with a maximum lod score of 3.56 at a recombination fraction of 0.0 for locus D1S414. Haplotypes were discordant and suggested that the disease mutation arose independently from at least two populations. These results refine the classification of early‐onset ataxia, abrogate a founder effect for this recessive disorder, and provide evidence that PCARP is a distinct, homogeneous, clinical, and genetic disorder.
Url:
DOI: 10.1002/1531-8257(200005)15:3<575::AID-MDS1023>3.0.CO;2-7
Affiliations:
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2000-05">2000-05</date><biblScope unit="vol">15</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="575">575</biblScope><biblScope unit="page" to="578">578</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">EA50E250C75AD0D74F9B76AF0E0C36D52AF8FDEB</idno><idno type="DOI">10.1002/1531-8257(200005)15:3<575::AID-MDS1023>3.0.CO;2-7</idno><idno type="ArticleID">MDS1023</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>AXPC1 locus</term><term>Age of onset</term><term>Ataxia</term><term>Child</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Chromosome Mapping</term><term>Consanguinity</term><term>Early</term><term>Exploration</term><term>Family study</term><term>Female</term><term>Genes, Recessive (genetics)</term><term>Genetic Linkage (genetics)</term><term>Genotype</term><term>Haplotypes</term><term>Human</term><term>Human chromosome 1q</term><term>Humans</term><term>Linkage</term><term>Male</term><term>Pedigree</term><term>Phenotype</term><term>Posterior spinal horn</term><term>Retinitis Pigmentosa (diagnosis)</term><term>Retinitis Pigmentosa (genetics)</term><term>Retinitis pigmentosa</term><term>Sensory ataxia</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Retinitis Pigmentosa</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Genes, Recessive</term><term>Genetic Linkage</term><term>Retinitis Pigmentosa</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Chromosome Disorders</term><term>Chromosome Mapping</term><term>Consanguinity</term><term>Female</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term><term>Ataxie</term><term>Corne médullaire postérieure</term><term>Etude familiale</term><term>Exploration</term><term>Homme</term><term>Liaison génétique</term><term>Locus AXPC1</term><term>Précoce</term><term>Rétinite pigmentaire</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">Autosomal recessive posterior column ataxia and retinitis pigmentosa (PCARP) is a movement disorder that was genetically mapped to a disease locus (AXPC1) on chromosome 1q32‐q31 in an inbred population of Dutch‐German ancestry in the continental United States. We performed genetic linkage analysis and haplotype reconstruction on a different family from Spain with an identical phenotype to determine if the neurologic signs of an early‐onset ataxia, retinitis pigmentosa, and a sensory neuropathy also mapped to the AXPC1 locus. The disease phenotype was linked in the candidate interval with a maximum lod score of 3.56 at a recombination fraction of 0.0 for locus D1S414. Haplotypes were discordant and suggested that the disease mutation arose independently from at least two populations. These results refine the classification of early‐onset ataxia, abrogate a founder effect for this recessive disorder, and provide evidence that PCARP is a distinct, homogeneous, clinical, and genetic disorder.</div></front></TEI><affiliations><list><country><li>Espagne</li><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name></region><name sortKey="Kluetzman, Kerri" sort="Kluetzman, Kerri" uniqKey="Kluetzman K" first="Kerri" last="Kluetzman">Kerri Kluetzman</name><name sortKey="Loveless, Joseph M" sort="Loveless, Joseph M" uniqKey="Loveless J" first="Joseph M." last="Loveless">Joseph M. Loveless</name></country><country name="Espagne"><noRegion><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="Jose" last="Berciano">Jose Berciano</name></noRegion><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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