Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Identifieur interne : 001530 ( Ncbi/Checkpoint ); précédent : 001529; suivant : 001531Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Auteurs : Renato P. Munhoz [Brésil] ; Toshitaka Kawarai ; Helio A. Teive ; Salmo Raskin ; Christine Sato ; Yan Liang ; Peter H. St George-Hyslop ; Ekaterina RogaevaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Adult, Brazil, Chromosome Aberrations, Chromosome Mapping, Female, Follow-Up Studies, Gait Disorders, Neurologic (diagnosis), Gait Disorders, Neurologic (genetics), Genes, Dominant (genetics), Humans, Male, Membrane Proteins (genetics), Middle Aged, Molecular Sequence Data, Mutation, Missense (genetics), Neurologic Examination, Pedigree, Sequence Analysis, DNA, Spastic Paraplegia, Hereditary (diagnosis), Spastic Paraplegia, Hereditary (genetics).
- MESH :
- chemical , genetics : Membrane Proteins.
- geographic : Brazil.
- diagnosis : Gait Disorders, Neurologic, Spastic Paraplegia, Hereditary.
- genetics : Gait Disorders, Neurologic, Genes, Dominant, Mutation, Missense, Spastic Paraplegia, Hereditary.
- Adult, Chromosome Aberrations, Chromosome Mapping, Female, Follow-Up Studies, Humans, Male, Middle Aged, Molecular Sequence Data, Neurologic Examination, Pedigree, Sequence Analysis, DNA.
Abstract
We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.
DOI: 10.1002/mds.20775
PubMed: 16267846
Affiliations:
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Munhoz</name><affiliation wicri:level="2"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name></author><author><name sortKey="St George Hyslop, Peter H" sort="St George Hyslop, Peter H" uniqKey="St George Hyslop P" first="Peter H" last="St George-Hyslop">Peter H. St George-Hyslop</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20775</idno><idno type="RBID">pubmed:16267846</idno><idno type="pmid">16267846</idno><idno type="wicri:Area/PubMed/Corpus">002D99</idno><idno type="wicri:Area/PubMed/Curation">002D99</idno><idno type="wicri:Area/PubMed/Checkpoint">002E19</idno><idno type="wicri:Area/Ncbi/Merge">001530</idno><idno type="wicri:Area/Ncbi/Curation">001530</idno><idno type="wicri:Area/Ncbi/Checkpoint">001530</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).</title><author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P" last="Munhoz">Renato P. Munhoz</name><affiliation wicri:level="2"><nlm:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR</wicri:regionArea><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name></author><author><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name></author><author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></author><author><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name></author><author><name sortKey="St George Hyslop, Peter H" sort="St George Hyslop, Peter H" uniqKey="St George Hyslop P" first="Peter H" last="St George-Hyslop">Peter H. St George-Hyslop</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Brazil</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Female</term><term>Follow-Up Studies</term><term>Gait Disorders, Neurologic (diagnosis)</term><term>Gait Disorders, Neurologic (genetics)</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation, Missense (genetics)</term><term>Neurologic Examination</term><term>Pedigree</term><term>Sequence Analysis, DNA</term><term>Spastic Paraplegia, Hereditary (diagnosis)</term><term>Spastic Paraplegia, Hereditary (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Genes, Dominant</term><term>Mutation, Missense</term><term>Spastic Paraplegia, Hereditary</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Neurologic Examination</term><term>Pedigree</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>Paraná (État)</li></region></list><tree><noCountry><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name><name sortKey="St George Hyslop, Peter H" sort="St George Hyslop, Peter H" uniqKey="St George Hyslop P" first="Peter H" last="St George-Hyslop">Peter H. St George-Hyslop</name><name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A" last="Teive">Helio A. Teive</name></noCountry><country name="Brésil"><region name="Paraná (État)"><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P" last="Munhoz">Renato P. Munhoz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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