MovDisordV3, PascalFrancis, Corpus, bibRecord, 001571

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum

Identifieur interne : 001571 ( PascalFrancis/Corpus ); précédent : 001570; suivant : 001572

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum

Auteurs : Marcondes C. Jr Franca ; Anelyssa D'Abreu ; Claudia V. Maurer-Morelli ; Rodrigo Seccolin ; Simone Appenzeller ; Andréia Alessio ; Benito P. Damasceno ; Anamarli Nucci ; Fernando Cendes ; Iscia Lopes-Cendes

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0448789

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Paraplégie spasmodique héréditaire Strumpell Lorrain, Prospective, Corps calleux, Imagerie RMN, Liaison génétique, Chromosome 15.

English descriptors

KwdEn :
- Chromosome 15, Corpus callosum, Genetic linkage, Hereditary spastic paraplegia, Nervous system diseases, Nuclear magnetic resonance imaging, Prospective.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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C01	`01`		`ENG`	@0 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.
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Format Inist (serveur)

NO :	PASCAL 07-0448789 INIST
ET :	Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
AU :	FRANCA (Marcondes C. JR); D'ABREU (Anelyssa); MAURER-MORELLI (Claudia V.); SECCOLIN (Rodrigo); APPENZELLER (Simone); ALESSIO (Andréia); DAMASCENO (Benito P.); NUCCI (Anamarli); CENDES (Fernando); LOPES-CENDES (Iscia)
AF :	Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP/Campinas, SP/Brésil (1 aut., 2 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP/Campinas, SP/Brésil (1 aut., 2 aut., 3 aut., 4 aut., 10 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1556-1562; Bibl. 18 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B02C; 002B17A01
FD :	Système nerveux pathologie; Paraplégie spasmodique héréditaire Strumpell Lorrain; Prospective; Corps calleux; Imagerie RMN; Liaison génétique; Chromosome 15
FG :	Encéphale pathologie; Maladie dégénérative; Maladie héréditaire; Moelle épinière pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Hereditary spastic paraplegia; Prospective; Corpus callosum; Nuclear magnetic resonance imaging; Genetic linkage; Chromosome 15
EG :	Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease
SD :	Sistema nervioso patología; Paraplejía espasmódica hereditaria Strumpell Lorrain; Prospectiva; Cuerpo calloso; Imaginería RMN; Ligamiento genético; Cromosoma 15
LO :	INIST-20953.354000149744800060
ID :	07-0448789

Links to Exploration step

Pascal:07-0448789

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum</title>
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<author><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name>
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<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>
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<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP</s1>
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<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>
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<ET>Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum</ET>
<AU>FRANCA (Marcondes C. JR); D'ABREU (Anelyssa); MAURER-MORELLI (Claudia V.); SECCOLIN (Rodrigo); APPENZELLER (Simone); ALESSIO (Andréia); DAMASCENO (Benito P.); NUCCI (Anamarli); CENDES (Fernando); LOPES-CENDES (Iscia)</AU>
<AF>Department of Neurology, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP/Campinas, SP/Brésil (1 aut., 2 aut., 5 aut., 6 aut., 7 aut., 8 aut., 9 aut.); Department of Medical Genetics, Faculty of Medicine, Universidade Estadual de Campinas-UNICAMP/Campinas, SP/Brésil (1 aut., 2 aut., 3 aut., 4 aut., 10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 11; Pp. 1556-1562; Bibl. 18 ref.</SO>
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<EA>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.</EA>
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<EG>Cerebral disorder; Degenerative disease; Genetic disease; Spinal cord disease; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Paraplejía espasmódica hereditaria Strumpell Lorrain; Prospectiva; Cuerpo calloso; Imaginería RMN; Ligamiento genético; Cromosoma 15</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum

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