A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Identifieur interne : 001A72 ( PubMed/Checkpoint ); précédent : 001A71; suivant : 001A73A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Auteurs : Tobias Warnecke [Allemagne] ; Thomas Duning ; Anja Schirmacher ; Siawoosh Mohammadi ; Wolfram Schwindt ; Hubertus Lohmann ; Rainer Dziewas ; Michael Deppe ; E Bernd Ringelstein ; Peter YoungSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution (genetics), Atrophy (genetics), Atrophy (pathology), Brain (pathology), DNA Mutational Analysis, DNA, Recombinant (genetics), Diffusion Magnetic Resonance Imaging, Electrodiagnosis, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Metalloendopeptidases (genetics), Middle Aged, Muscle Fibers, Skeletal (pathology), Neural Pathways (pathology), Neuropsychological Tests, Phenotype, Point Mutation (genetics), Spastic Paraplegia, Hereditary (genetics), Twins, Dizygotic (genetics), Twins, Monozygotic (genetics).
- MESH :
- chemical , genetics : DNA, Recombinant, Metalloendopeptidases.
- genetics : Amino Acid Substitution, Atrophy, Point Mutation, Spastic Paraplegia, Hereditary, Twins, Dizygotic, Twins, Monozygotic.
- pathology : Atrophy, Brain, Muscle Fibers, Skeletal, Neural Pathways.
- Adult, DNA Mutational Analysis, Diffusion Magnetic Resonance Imaging, Electrodiagnosis, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Middle Aged, Neuropsychological Tests, Phenotype.
Abstract
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.
DOI: 10.1002/mds.22949
PubMed: 20108356
Affiliations:
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sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name></author><author><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name></author><author><name sortKey="Schwindt, Wolfram" sort="Schwindt, Wolfram" uniqKey="Schwindt W" first="Wolfram" last="Schwindt">Wolfram Schwindt</name></author><author><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name></author><author><name sortKey="Dziewas, Rainer" sort="Dziewas, Rainer" uniqKey="Dziewas R" first="Rainer" last="Dziewas">Rainer Dziewas</name></author><author><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name></author><author><name sortKey="Ringelstein, E Bernd" sort="Ringelstein, E Bernd" uniqKey="Ringelstein E" first="E Bernd" 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Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital of Münster, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name></author><author><name sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name></author><author><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name></author><author><name sortKey="Schwindt, Wolfram" sort="Schwindt, Wolfram" uniqKey="Schwindt W" first="Wolfram" last="Schwindt">Wolfram Schwindt</name></author><author><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name></author><author><name sortKey="Dziewas, Rainer" sort="Dziewas, Rainer" uniqKey="Dziewas R" first="Rainer" last="Dziewas">Rainer Dziewas</name></author><author><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name></author><author><name sortKey="Ringelstein, E Bernd" sort="Ringelstein, E Bernd" uniqKey="Ringelstein E" first="E Bernd" last="Ringelstein">E Bernd Ringelstein</name></author><author><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution (genetics)</term><term>Atrophy (genetics)</term><term>Atrophy (pathology)</term><term>Brain (pathology)</term><term>DNA Mutational Analysis</term><term>DNA, Recombinant (genetics)</term><term>Diffusion Magnetic Resonance Imaging</term><term>Electrodiagnosis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Metalloendopeptidases (genetics)</term><term>Middle Aged</term><term>Muscle Fibers, Skeletal (pathology)</term><term>Neural Pathways (pathology)</term><term>Neuropsychological Tests</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Spastic Paraplegia, Hereditary (genetics)</term><term>Twins, Dizygotic (genetics)</term><term>Twins, Monozygotic (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Recombinant</term><term>Metalloendopeptidases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term><term>Atrophy</term><term>Point Mutation</term><term>Spastic Paraplegia, Hereditary</term><term>Twins, Dizygotic</term><term>Twins, Monozygotic</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrophy</term><term>Brain</term><term>Muscle Fibers, Skeletal</term><term>Neural Pathways</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Diffusion Magnetic Resonance Imaging</term><term>Electrodiagnosis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20108356</PMID><DateCreated><Year>2010</Year><Month>03</Month><Day>23</Day></DateCreated><DateCompleted><Year>2010</Year><Month>08</Month><Day>10</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>4</Issue><PubDate><Year>2010</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.</ArticleTitle><Pagination><MedlinePgn>413-20</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22949</ELocationID><Abstract><AbstractText>Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Warnecke</LastName><ForeName>Tobias</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Neurology, University Hospital of Münster, Münster, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Duning</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Schirmacher</LastName><ForeName>Anja</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Mohammadi</LastName><ForeName>Siawoosh</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Schwindt</LastName><ForeName>Wolfram</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Hubertus</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Dziewas</LastName><ForeName>Rainer</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Deppe</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ringelstein</LastName><ForeName>E Bernd</ForeName><Initials>EB</Initials></Author><Author ValidYN="Y"><LastName>Young</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D018486">Twin Study</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004274">DNA, Recombinant</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.4.24.-</RegistryNumber><NameOfSubstance UI="D008666">Metalloendopeptidases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.4.24.-</RegistryNumber><NameOfSubstance UI="C112889">SPG7 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019943">Amino Acid Substitution</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004274">DNA, Recombinant</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D038524">Diffusion Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004568">Electrodiagnosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008666">Metalloendopeptidases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018485">Muscle Fibers, Skeletal</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009434">Neural Pathways</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015419">Spastic Paraplegia, Hereditary</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014429">Twins, Dizygotic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014430">Twins, Monozygotic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>1</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>1</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>8</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22949</ArticleId><ArticleId IdType="pubmed">20108356</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>District de Münster</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Münster</li></settlement></list><tree><noCountry><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><name sortKey="Dziewas, Rainer" sort="Dziewas, Rainer" uniqKey="Dziewas R" first="Rainer" last="Dziewas">Rainer Dziewas</name><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name><name sortKey="Ringelstein, E Bernd" sort="Ringelstein, E Bernd" uniqKey="Ringelstein E" first="E Bernd" last="Ringelstein">E Bernd Ringelstein</name><name sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name><name sortKey="Schwindt, Wolfram" sort="Schwindt, Wolfram" uniqKey="Schwindt W" first="Wolfram" last="Schwindt">Wolfram Schwindt</name><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name></noCountry><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Warnecke, Tobias" sort="Warnecke, Tobias" uniqKey="Warnecke T" first="Tobias" last="Warnecke">Tobias Warnecke</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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