Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
Identifieur interne : 003079 ( Main/Exploration ); précédent : 003078; suivant : 003080Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
Auteurs : Marcondes C. Jr Franca [Brésil] ; Anelyssa D'Abreu [Brésil] ; Claudia V. Maurer-Morelli [Brésil] ; Rodrigo Seccolin [Brésil] ; Simone Appenzeller [Brésil] ; Andréia Alessio [Brésil] ; Benito P. Damasceno [Brésil] ; Anamarli Nucci [Brésil] ; Fernando Cendes [Brésil] ; Iscia Lopes-Cendes [Brésil]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Prospective.
English descriptors
- KwdEn :
Abstract
Our objective was to estimate the frequency as well as to establish the clinical and neuroimaging profile of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). HSP-TCC was recognized as a specific clinical subtype of HSP and mapped to chromosome (ch) 15q13-15 in Japanese families. It has been considered rare in western countries. We assessed 45 patients with autosomal recessive HSP from 20 different families in search of clinical and imaging criteria for the diagnosis of HSP-TCC. In addition, HSP-TCC patients underwent further neurological, imaging and genetic evaluation. MRI scans were performed in a 2T scanner and sagittal T1 weighted images used for semiautomated volumetric measurements of corpus callosum, cerebellum, and brain. In seven patients, a 2-year follow-up MRI scan was performed. We genotyped seven microsatellite markers flanking the 15q13-15 candidate region and calculated two-point and multipoint LOD scores (Z). We identified 13 patients from seven unrelated families with HSP-TCC. MRI showed significant corpus callosum, cerebral and cerebellar volumetric reductions (P < 0.001, P = 0.03, and P = 0.01, respectively). In the prospective analysis, we found progressive corpus callosum atrophy (P = 0.04). Two-point and multipoint LOD scores were significantly negative for markers genotyped on ch 15q. However, independent pedigree analysis did not yield significant results. HSP-TCC was found in 35% of families with autosomal recessive HSP. MRI volumetry showed cerebral and cerebellar atrophy in association with progressive corpus callosum thinning. Genetic studies did not show evidence for linkage to ch 15q.
Affiliations:
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Jr Franca</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Maurer Morelli, Claudia V" sort="Maurer Morelli, Claudia V" uniqKey="Maurer Morelli C" first="Claudia V." last="Maurer-Morelli">Claudia V. 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Damasceno</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Nucci, Anamarli" sort="Nucci, Anamarli" uniqKey="Nucci A" first="Anamarli" last="Nucci">Anamarli Nucci</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Cendes, Fernando" sort="Cendes, Fernando" uniqKey="Cendes F" first="Fernando" last="Cendes">Fernando Cendes</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0448789</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0448789 INIST</idno><idno type="RBID">Pascal:07-0448789</idno><idno type="wicri:Area/PascalFrancis/Corpus">001571</idno><idno type="wicri:Area/PascalFrancis/Curation">001750</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001511</idno><idno type="wicri:doubleKey">0885-3185:2007:Franca M:prospective:neuroimaging:study</idno><idno type="wicri:Area/Main/Merge">004101</idno><idno type="wicri:Area/Main/Curation">003079</idno><idno type="wicri:Area/Main/Exploration">003079</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum</title><author><name sortKey="Franca, Marcondes C Jr" sort="Franca, Marcondes C Jr" uniqKey="Franca M" first="Marcondes C. Jr" last="Franca">Marcondes C. Jr Franca</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Maurer Morelli, Claudia V" sort="Maurer Morelli, Claudia V" uniqKey="Maurer Morelli C" first="Claudia V." last="Maurer-Morelli">Claudia V. Maurer-Morelli</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Seccolin, Rodrigo" sort="Seccolin, Rodrigo" uniqKey="Seccolin R" first="Rodrigo" last="Seccolin">Rodrigo Seccolin</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Appenzeller, Simone" sort="Appenzeller, Simone" uniqKey="Appenzeller S" first="Simone" last="Appenzeller">Simone Appenzeller</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Alessio, Andreia" sort="Alessio, Andreia" uniqKey="Alessio A" first="Andréia" last="Alessio">Andréia Alessio</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Damasceno, Benito P" sort="Damasceno, Benito P" uniqKey="Damasceno B" first="Benito P." last="Damasceno">Benito P. Damasceno</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Nucci, Anamarli" sort="Nucci, Anamarli" uniqKey="Nucci A" first="Anamarli" last="Nucci">Anamarli Nucci</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Cendes, Fernando" sort="Cendes, Fernando" uniqKey="Cendes F" first="Fernando" last="Cendes">Fernando Cendes</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1><s2>Campinas, SP</s2><s3>BRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">État de São Paulo</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome 15</term><term>Corpus callosum</term><term>Genetic linkage</term><term>Hereditary spastic paraplegia</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Prospective</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Paraplégie spasmodique héréditaire Strumpell Lorrain</term><term>Prospective</term><term>Corps calleux</term><term>Imagerie RMN</term><term>Liaison génétique</term><term>Chromosome 15</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Prospective</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Our objective was to estimate the frequency as well as to establish the clinical and neuroimaging profile of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). HSP-TCC was recognized as a specific clinical subtype of HSP and mapped to chromosome (ch) 15q13-15 in Japanese families. It has been considered rare in western countries. We assessed 45 patients with autosomal recessive HSP from 20 different families in search of clinical and imaging criteria for the diagnosis of HSP-TCC. In addition, HSP-TCC patients underwent further neurological, imaging and genetic evaluation. MRI scans were performed in a 2T scanner and sagittal T1 weighted images used for semiautomated volumetric measurements of corpus callosum, cerebellum, and brain. In seven patients, a 2-year follow-up MRI scan was performed. We genotyped seven microsatellite markers flanking the 15q13-15 candidate region and calculated two-point and multipoint LOD scores (Z). We identified 13 patients from seven unrelated families with HSP-TCC. MRI showed significant corpus callosum, cerebral and cerebellar volumetric reductions (P < 0.001, P = 0.03, and P = 0.01, respectively). In the prospective analysis, we found progressive corpus callosum atrophy (P = 0.04). Two-point and multipoint LOD scores were significantly negative for markers genotyped on ch 15q. However, independent pedigree analysis did not yield significant results. HSP-TCC was found in 35% of families with autosomal recessive HSP. MRI volumetry showed cerebral and cerebellar atrophy in association with progressive corpus callosum thinning. Genetic studies did not show evidence for linkage to ch 15q.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Franca, Marcondes C Jr" sort="Franca, Marcondes C Jr" uniqKey="Franca M" first="Marcondes C. Jr" last="Franca">Marcondes C. Jr Franca</name></region><name sortKey="Alessio, Andreia" sort="Alessio, Andreia" uniqKey="Alessio A" first="Andréia" last="Alessio">Andréia Alessio</name><name sortKey="Appenzeller, Simone" sort="Appenzeller, Simone" uniqKey="Appenzeller S" first="Simone" last="Appenzeller">Simone Appenzeller</name><name sortKey="Cendes, Fernando" sort="Cendes, Fernando" uniqKey="Cendes F" first="Fernando" last="Cendes">Fernando Cendes</name><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><name sortKey="Damasceno, Benito P" sort="Damasceno, Benito P" uniqKey="Damasceno B" first="Benito P." last="Damasceno">Benito P. Damasceno</name><name sortKey="Franca, Marcondes C Jr" sort="Franca, Marcondes C Jr" uniqKey="Franca M" first="Marcondes C. Jr" last="Franca">Marcondes C. Jr Franca</name><name sortKey="Lopes Cendes, Iscia" sort="Lopes Cendes, Iscia" uniqKey="Lopes Cendes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name><name sortKey="Maurer Morelli, Claudia V" sort="Maurer Morelli, Claudia V" uniqKey="Maurer Morelli C" first="Claudia V." last="Maurer-Morelli">Claudia V. Maurer-Morelli</name><name sortKey="Nucci, Anamarli" sort="Nucci, Anamarli" uniqKey="Nucci A" first="Anamarli" last="Nucci">Anamarli Nucci</name><name sortKey="Seccolin, Rodrigo" sort="Seccolin, Rodrigo" uniqKey="Seccolin R" first="Rodrigo" last="Seccolin">Rodrigo Seccolin</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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