Literature search at Indiana University, Bloomington, Indiana
TITLE: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
AUTHOR(S): Finckh-U; Schroder-J; Ressler-B; Veske-A; Gal-A
ADDRESS OF AUTHOR: Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Hamburg, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 2000 May 1; 92(1): 40-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis or hypoplasia of corpus callosum, spastic paraplegia, and mental retardation (L1-disease). We screened 153 cases with prenatally or clinically suspected X-chromosomal hydrocephalus for L1CAM mutations by SSCP analysis of the 28 coding exons and regulatory elements in the 5'-untranslated region of the gene. Forty-six pathogenic mutations were found (30.1% detection rate), the majority consisting of nonsense, frameshift, and splice site mutations. In eight cases, segregation analysis disclosed recent de novo mutations. Statistical analysis of the data indicates a significant effect on mutation detection rate of (i) family history, (ii) number of L1-disease typical clinical findings, and (iii) presence or absence of signs not typically associated with L1CAM-disease. Whereas mutation detection rate was 74.2% for patients with at least two additional cases in the family, only 16 mutations were found in the 102 cases with negative family history (15.7% detection rate). Our data suggest a higher than previously assumed contribution of L1CAM mutations in the pathogenesis of the heterogeneous group of congenital hydrocephalus. Copyright 2000 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adolescence-; Adult-; Alternative-Splicing-genetics; Cercopithecus-aethiops; Child-; Child,-Preschool; Corpus-Callosum-abnormalities; COS-Cells; DNA-Mutational-Analysis; DNA,-Complementary-chemistry; DNA,-Complementary-genetics; Family-Health; Frameshift-Mutation; Genotype-; Hydrocephalus-; Infant-; Linkage-Genetics; Mental-Retardation; Molecular-Sequence-Data; Mutation-; Mutation,-Missense; Paraplegia-; Phenotype-; Polymorphism-Genetics; Polymorphism,-Single-Stranded-Conformational; RNA,-Messenger-genetics; Sequence-Analysis,-DNA; Thumb-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Membrane-Glycoproteins-genetics; *NCAM-genetics; *X-Chromosome-genetics
CHECKTAGS: Animal; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: DNA,-Complementary; L1-antigen; Membrane-Glycoproteins; NCAM; RNA,-Messenger
MEDLINE ACCESSION NUMBER: 20259241
UPDATE CODE: 200007
SECONDARY SOURCE IDENTIFIER: GENBANK/AF129167
Record 2 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
AUTHOR(S): Christensen-B; Blaas-HG; Isaksen-CV; Roald-B; Orstavik-KH
ADDRESS OF AUTHOR: Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 2000 Mar 20; 91(3): 231-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a male and a female fetus, respectively, with anencephaly, median cleft lip and palate, omphalocele, and preaxial polydactyly, suggesting the diagnosis of the acrocallosal syndrome. Both fetuses also lacked eyes and nose, a finding not previously reported in the acrocallosal syndrome. Microphthalmia has been reported in the hydrolethalus syndrome, which may be caused by mutations in the same gene as the acrocallosal syndrome. The present report adds support to the hypothesis that the acrocallosal and hydrolethalus syndromes may be allelic conditions. The family history is consistent with autosomal recessive inheritance. Copyright 2000 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Anencephaly-genetics; Anencephaly-ultrasonography; Anophthalmos-genetics; Anophthalmos-ultrasonography; Cleft-Lip-genetics; Cleft-Lip-ultrasonography; Cleft-Palate-genetics; Cleft-Palate-ultrasonography; Corpus-Callosum-ultrasonography; Genes,-Recessive; Hernia,-Umbilical-genetics; Hernia,-Umbilical-ultrasonography; Nose-abnormalities; Nose-ultrasonography; Nuclear-Family; Polydactyly-genetics; Polydactyly-ultrasonography; Pregnancy-; Syndrome-; Ultrasonography,-Prenatal
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-ultrasonography; *Corpus-Callosum-abnormalities; *Fetus-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20221267
UPDATE CODE: 200007
Record 3 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Role of cholesterol in embryonic development.
AUTHOR(S): Roux-C; Wolf-C; Mulliez-N; Gaoua-W; Cormier-V; Chevy-F; Citadelle-D
ADDRESS OF AUTHOR: Laboratoire d'Embryologie Pathologique Experimentale, CHU Saint-Antoine, Paris, France. chroux@ccr.jussieu.fr
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Clin-Nutr. 2000 May; 71(5 Suppl): 1270S-9S
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9165
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We showed previously that 3 distal inhibitors of cholesterol synthesis are highly teratogenic in rats. AY 9944 and BM 15766 inhibit 7-dehydrocholesterol reductase, which catalyzes the last step of cholesterol synthesis, and triparanol inhibits Delta(24)-dehydrocholesterol reductase, which catalyzes the last step in another pathway. These molecules cause holoprosencephalic brain anomalies. Under certain experimental conditions, other anomalies (of the limbs and male genitalia) are also observed. Assays performed by gas chromatography-mass spectrometry (GC-MS) show hypocholesterolemia and an accumulation of precursors. These data indicate that this animal model can be considered a model of Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive. The syndrome has been attributed to a deficit in 7-dehydrocholesterol reductase. As assayed by GC-MS, the sterol status of these patients indicates severe hypocholesterolemia and an accumulation of precursors: 7-dehydrocholesterol, 8-dehydrocholesterol, and oxidized derivatives. The presence of 7-dehydrocholesterol in the serum of patients is pathognomonic of the disease. The developmental gene Shh (sonic hedgehog) plays a key role in brain, limb, and genital development; it was shown recently that the Shh protein has to be covalently linked to cholesterol to be active. This is the first time that a posttranslational function has been attributed to cholesterol. There is an obvious relation between Shh dysfunction and the malformations observed in our experiments and in patients with Smith-Lemli-Opitz syndrome. However, the exact relation remains to be clarified. It is clear, however, that the role of cholesterol in embryonic development must be taken into account.
MINOR MESH HEADINGS: AY-9944-toxicity; Disease-Models,-Animal; Piperazines-toxicity; Rats-; Smith-Lemli-Opitz-Syndrome-chemically-induced; Smith-Lemli-Opitz-Syndrome-metabolism; Triparanol-toxicity
MAJOR MeSH HEADINGS: *Anticholesteremic-Agents-toxicity; *Cholesterol-physiology; *Dehydrocholesterols-antagonists-and-inhibitors; *Fetal-Development-drug-effects; *Fetus-metabolism; *Smith-Lemli-Opitz-Syndrome-embryology
CHECKTAGS: Animal; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 366-93-8; 434-16-2; 57-88-5; 78-41-1; 86621-92-3
NAME OF SUBSTANCE: Anticholesteremic-Agents; Dehydrocholesterols; Piperazines; AY-9944; 7-dehydrocholesterol; Cholesterol; Triparanol; BM-15766
MEDLINE ACCESSION NUMBER: 20262134
UPDATE CODE: 200007
SUBSET: AIM
Record 4 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Incomplete gustatory lateralization as shown by analysis of taste discrimination after callosotomy.
AUTHOR(S): Aglioti-S; Tassinari-G; Corballis-MC; Berlucchi-G
ADDRESS OF AUTHOR: Universita "La Sapienza" and RCCS S. Lucia, Rome.
SOURCE (BIBLIOGRAPHIC CITATION): J-Cogn-Neurosci. 2000 Mar; 12(2): 238-45
INTERNATIONAL STANDARD SERIAL NUMBER: 0898-929X
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The lateral organization of the gustatory pathway in man is incompletely understood. Majority of the studies support an uncrossed projection from each side of the tongue to the cortex, but reports of an opposite crossed organization continue to appear in the neurological literature. We studied the lateral organization of the gustatory pathway in normal controls, a man with a complete callosal agenesis, and a man with a complete section of the corpus callosum, a right anterior-frontal lesion, and language in the left hemisphere. Sapid solutions were applied to one or the other side of the tongue, and subjects reported the taste of the stimulus either verbally or by manually pointing to the name of the taste. There were no differences in accuracy and reaction time between the right and left hemitongues of the controls and the genetically acallosal observer. By contrast, the callosotomy subject showed a constant marked advantage of the left hemitongue over the right for both accuracy and speed of response, though performance with right stimuli was clearly above chance. The left advantage can be attributed to the left hemisphere being favored by the essentially verbal nature of the task, or to the presence of a lesion in cortical gustatory areas in the right hemisphere, or to both factors. Whichever of these hypotheses turns out to be correct, the results unequivocally reject the notion of an exclusively crossed organization of the gustatory pathway from the tongue to the cortex, and favor the notion of a bilaterally distributed organization of this pathway with a marked predominance of the uncrossed over the crossed component.
MINOR MESH HEADINGS: Adult-; Corpus-Callosum-surgery
MAJOR MeSH HEADINGS: *Corpus-Callosum-abnormalities; *Corpus-Callosum-physiology; *Discrimination-Psychology; *Laterality-physiology; *Taste-physiology
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20235633
UPDATE CODE: 200007
Record 5 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Agenesis of the corpus callosum.
AUTHOR(S): Kelkar-P; Lovblad-KO; O'Callaghan-B; Remonda-L; Schroth-G
ADDRESS OF AUTHOR: Department of Neuroradiology, IDR Inselspital, Bern, Switzerland.
SOURCE (BIBLIOGRAPHIC CITATION): JBR-BTR. 2000 FE; 83(1): 16
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: BELGIUM
MINOR MESH HEADINGS: Cerebellum-abnormalities; Cerebellum-pathology; Corpus-Callosum-pathology; Fourth-Ventricle-pathology; Infant,-Newborn; Lateral-Ventricles-pathology; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Corpus-Callosum-abnormalities; *Dandy-Walker-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20232336
UPDATE CODE: 200007
Record 6 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Parallel visuomotor processing in the split brain: cortico-subcortical interactions.
AUTHOR(S): Iacoboni-M; Ptito-A; Weekes-NY; Zaidel-E
ADDRESS OF AUTHOR: Brain Mapping Division, Department of Psychiatry and Biobehavioral Sciences, UCLA School of Medicine, Los Angeles, CA 90095-7085, USA. iacoboni@loni.ucla.edu
SOURCE (BIBLIOGRAPHIC CITATION): Brain. 2000 Apr; 123 ( Pt 4): 759-69
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8950
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We tested nine patients with callosal pathology in a simple reaction time task with and without redundant targets in the same or opposite visual hemifield. Four patients showed large facilitation (redundancy gain) in the presence of a redundant target, exceeding probability summation models (neural summation). Five patients showed redundancy gain not exceeding probability models. Violation of probability models was not associated with a specific type of callosal lesion. Neural summation, which probably occurs at collicular level, may be modulated by cortical activity. To test this hypothesis, we used functional MRI. During detection of redundant simultaneous targets, activations in the extrastriate cortex were observed in a patient with callosal agenesis and redundancy gain violating probability models, but not in a patient with callosal agenesis and redundancy gain not exceeding probability models. We conclude that cortical activity in the extrastriate cortex may be a modulating factor in the magnitude of the redundancy gain during parallel visuomotor transforms.
MINOR MESH HEADINGS: Cerebral-Cortex-physiopathology; Corpus-Callosum-abnormalities; Corpus-Callosum-pathology; Corpus-Callosum-physiopathology; Magnetic-Resonance-Imaging; Models,-Neurological; Probability-; Visual-Cortex-physiopathology
MAJOR MeSH HEADINGS: *Brain-physiopathology; *Dominance,-Cerebral-physiology; *Psychomotor-Performance
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: NS20187NSNINDS
MEDLINE ACCESSION NUMBER: 20200220
UPDATE CODE: 200007
SUBSET: AIM
Record 7 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly.
AUTHOR(S): Kato-M; Nanba-E; Akaboshi-S; Shiihara-T; Ito-A; Honma-T; Tsuburaya-K; Hayasaka-K
ADDRESS OF AUTHOR: Department of Pediatrics, Yamagata University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 2000 Apr; 47(4): 514-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We investigated the molecular basis of holoprosencephaly in a sporadic patient and identified a novel missense mutation in the signal sequence of the sonic hedgehog (Shh) gene. Magnetic resonance imaging of the head showed a lobar type of holoprosencephaly and partial agenesis of the anterior corpus callosum. He was treated for craniosynostosis at 7 months of age. All three exons of the Shh gene were amplified by polymerase chain reaction from genomic DNA of the patient and controls. Sequencing analysis of the polymerase chain reaction fragments, screened by single-strand conformation polymorphism analysis, revealed a heterozygous mutation of a T-to-C substitution at nucleotide position 50. This mutation predicted an amino acid replacement of leucine to proline at codon 17 located in the signal peptide of SHH protein. It probably disturbs the translocation of the protein into the endoplasmic reticulum and may lead to holoprosencephaly because of haploinsufficiency of Shh.
MINOR MESH HEADINGS: Adult-; Corpus-Callosum-abnormalities; Corpus-Callosum-chemistry; Holoprosencephaly-pathology; Magnetic-Resonance-Imaging; Signal-Peptides-genetics
MAJOR MeSH HEADINGS: *Holoprosencephaly-genetics; *Point-Mutation; *Proteins-genetics
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: hedgehog-protein,-vertebrate; Proteins; Signal-Peptides
MEDLINE ACCESSION NUMBER: 20222818
UPDATE CODE: 200006
Record 8 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Effect of luminance on successiveness discrimination in the absence of the corpus callosum.
AUTHOR(S): Forster-B; Corballis-PM; Corballis-MC
ADDRESS OF AUTHOR: University of Verona, Human Physiology Section, Department of Neurological and Visual Science, Strada La Grazie 8, 37134, Verona, Italy. bettinaf@borgorma.univr.it
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychologia. 2000; 38(4): 441-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Three split-brained subjects, one with full forebrain commissurotomy and two with callosotomy, were impaired at judging whether pairs of lights in opposite visual fields were successive or simultaneous. This impairment did not vary with luminance when the lights were grey against a dark background, but was more pronounced when the lights were equiluminant with a yellow background. All three subjects were also better able to discriminate succession from simultaneity when the lights were both in the left visual field than when they were both in the right. A fourth subject with callosal agenesis was only slightly impaired relative to normal subjects, who were virtually errorless.
MINOR MESH HEADINGS: Adult-; Corpus-Callosum-abnormalities; Corpus-Callosum-surgery; Magnetic-Resonance-Imaging; Middle-Age; Photic-Stimulation; Visual-Fields-physiology; Visual-Pathways-physiology; Visual-Perception-physiology
MAJOR MeSH HEADINGS: *Corpus-Callosum-physiology; *Discrimination-Psychology-physiology; *Laterality-physiology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE; RANDOMIZED-CONTROLLED-TRIAL
MEDLINE ACCESSION NUMBER: 20149039
UPDATE CODE: 200006
Record 9 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.
AUTHOR(S): Prakash-SK; Paylor-R; Jenna-S; Lamarche-Vane-N; Armstrong-DL; Xu-B; Mancini-MA; Zoghbi-HY
ADDRESS OF AUTHOR: Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 2000 Mar 1; 9(4): 477-88
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3. Our laboratory isolated a novel rho GTPase-activating protein (rhoGAP) gene named ARHGAP6 from the MLS region. ARHGAP6 contains 14 exons encoding a 974 amino acid protein with three putative SH3-binding domains. Because exons 2-14 are deleted in all MLS patients, we hypothesized that ARHGAP6 may be responsible for some of the phenotypic features of MLS. We pursued two approaches to study the function of ARHGAP6 and its role in the pathogenesis of MLS: gene targeting of the rhoGAP domain in mouse embryonic stem cells and in vitro expression studies. Surprisingly, loss of the rhoGAP function of Arhgap6 does not cause any detectable phenotypic or behavioral abnormalities in the mutant mice. Transfected mammalian cells expressing ARHGAP6 lose their actin stress fibers, retract from the growth surface and extend thin, branching processes resembling filopodia. The ARHGAP6 protein co-localizes with actin filaments through an N-terminal domain and recruits F-actin into the growing processes. Mutation of a conserved arginine residue in the rhoGAP domain prevents the loss of stress fibers but has little effect on process outgrowth. These results suggest that ARHGAP6 has two independent functions: one as a GAP with specificity for RhoA and the other as a cytoskeletal protein that promotes actin remodeling.
MINOR MESH HEADINGS: cdc42-GTP-Binding-Protein-physiology; rac1-GTP-Binding-Protein-physiology; rhoA-GTP-Binding-Protein-deficiency; rhoA-GTP-Binding-Protein-genetics; rhoA-GTP-Binding-Protein-isolation-and-purification; Actins-metabolism; Actins-physiology; Alternative-Splicing; Amino-Acid-Sequence; Behavior,-Animal; Cytoplasm-physiology; Cytoskeleton-metabolism; Cytoskeleton-physiology; Exons-; GTPase-Activating-Proteins-deficiency; GTPase-Activating-Proteins-genetics; GTPase-Activating-Proteins-isolation-and-purification; Introns-; Mice-; Mice,-Inbred-C57BL; Mice,-Knockout; Microphthalmos-genetics; Microphthalmos-pathology; Microphthalmos-physiopathology; Molecular-Sequence-Data; Muscle,-Skeletal-abnormalities; Muscle,-Skeletal-pathology; Peptide-Fragments-physiology
MAJOR MeSH HEADINGS: *rhoA-GTP-Binding-Protein-physiology; *GTPase-Activating-Proteins-physiology
CHECKTAGS: Animal; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.6.1.-; EC 3.6.1.-; EC 3.6.1.-; 0; 0; 0; 0
NAME OF SUBSTANCE: cdc42-GTP-Binding-Protein; rac1-GTP-Binding-Protein; rhoA-GTP-Binding-Protein; Actins; ARHGAP6-protein; GTPase-Activating-Proteins; Peptide-Fragments
MEDLINE ACCESSION NUMBER: 20164286
UPDATE CODE: 200006
SECONDARY SOURCE IDENTIFIER: GENBANK/AF177663; GENBANK/AF177664; GENBANK/AF177665
Record 10 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Interhemispheric visual integration in three cases of familial callosal agenesis.
AUTHOR(S): Corballis-MC; Finlay-DC
ADDRESS OF AUTHOR: Research Centre for Cognitive Neuroscience, Department of Psychology, University of Auckland, New Zealand. m.corballis@auckland.ac.nz
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychology. 2000 Jan; 14(1): 60-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0894-4105
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Three cases of callosal agenesis (a 39-year-old woman and her 11- and 12-year-old daughters) were tested on their ability to integrate visual information between the visual hemifields. They were all able to name colors and digits in either hemifield with high accuracy and were able to decide whether letters or digits in opposite hemifields were the same or different. They had greater difficulty deciding whether colors in opposite hemifields were the same or different. When shown 6-letter words made up of pairs of 3-letter words that straddled the midline (e.g., MANAGE, ROTATE), they responded to them as whole words and never as 3-letter words, suggesting perceptual continuity across the midline, at least for verbal material. The most likely interpretation is that the integration of form, but not color, is achieved through the intact anterior commissure in these participants.
MINOR MESH HEADINGS: Adult-; Child-; Genetics-; Magnetic-Resonance-Imaging; Visual-Fields-physiology
MAJOR MeSH HEADINGS: *Brain-physiology; *Corpus-Callosum-abnormalities; *Laterality-physiology; *Vision-physiology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20137263
UPDATE CODE: 200005
Record 11 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Cranial MRI in the Nijmegen breakage syndrome.
AUTHOR(S): Bekiesinska-Figatowska-M; Chrzanowska-KH; Sikorska-J; Walecki-J; Krajewska-Walasek-M; Jozwiak-S; Kleijer-WJ
ADDRESS OF AUTHOR: Department of Diagnostic Imaging, Central Railway Hospital, Bursztynowa 2, PL-04-749 Warsaw, Poland,
SOURCE (BIBLIOGRAPHIC CITATION): Neuroradiology. 2000 Jan; 42(1): 43-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3940
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage syndrome (NBS), aged 1.75-19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and gamma-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.
MINOR MESH HEADINGS: Adolescence-; Ataxia-Telangiectasia-genetics; Child-; Child,-Preschool; Chromosome-Breakage; Diagnostic-Imaging-methods; Genetic-Predisposition-to-Disease; Infant-; Magnetic-Resonance-Imaging; Syndrome-
MAJOR MeSH HEADINGS: *Ataxia-Telangiectasia-pathology; *Brain-pathology; *Tomography,-X-Ray-Computed-adverse-effects
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20130501
UPDATE CODE: 200005
Record 12 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: The acallosal mouse strain I/LnJ: a putative model of ADHD?
AUTHOR(S): Magara-F; Ricceri-L; Wolfer-DP; Lipp-HP
ADDRESS OF AUTHOR: Institute of Anatomy, University of Zurich Switzerland. magara@anatom.unizh.ch
SOURCE (BIBLIOGRAPHIC CITATION): Neurosci-Biobehav-Rev. 2000 Jan; 24(1): 45-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0149-7634
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: ADHD has been sometimes associated to a defective interhemispheric cross-talk caused by hypoplasia of the corpus callosum. The inbred mouse strain I/LnJ shows total callosal agenesis with complete penetrance, and behavioral features which resemble ADHD. In conditioned learning tasks, as well as in paradigms of spontaneous behavior. I/LnJ mice, as compared to other inbred strains, show lower learning scores, impulsiveness, and significantly higher locomotor activity, albeit with considerable individual variations. In order to disentangle the influences of the genetic background from the effects of the callosal agenesis, we undertook crossing studies between I/LnJ and C57BL/6 mice, obtaining hybrids with missing corpus callosum. In comparison to normal C57BL/6 mice, acallosal hybrids exposed to a novel open-field showed a different locomotor pattern, with less short stops and more center crossing during the beginning of the session. In a metabolic mapping study, the tendency of acallosals to stay off the walls was found to be associated to lower 2-deoxyglucose uptake in the left striatum and cerebral cortex, while the number of short stops was correlated to the bilateral levels of 2-deoxyglucose uptake in the frontal and parietal cortex. The results hint at a right hemisphere dominance in impulsiveness and hyperactivity, boosted by the lack of callosal connections.
MINOR MESH HEADINGS: Attention-Deficit-Disorder-with-Hyperactivity-psychology; Avoidance-Learning-physiology; Behavior,-Animal-physiology; Mice-; Mice,-Neurologic-Mutants-genetics
MAJOR MeSH HEADINGS: *Attention-Deficit-Disorder-with-Hyperactivity-genetics; *Corpus-Callosum-abnormalities; *Mice,-Neurologic-Mutants-physiology
CHECKTAGS: Animal; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 20118821
UPDATE CODE: 200004
Record 13 of 13 in MEDLINE EXPRESS (R) 2000/01-2000/07
TITLE: Interhemispheric transfer of colour and shape information in the presence and absence of the corpus callosum.
AUTHOR(S): Forster-B; Corballis-MC
ADDRESS OF AUTHOR: Research Centre for Cognitive Neuroscience, Department of Psychology, University of Auckland, New Zealand. bettinaf@borgoroma.univr.it
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychologia. 2000; 38(1): 32-45
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Two split-brained subjects, one (L.B.) with full forebrain commissurotomy and one (R.B.) with callosal agenesis, and a group of twenty neurologically intact subjects were tested in three discrimination tasks: a go-no go task, a two-choice task, and a three-choice task. The discriminations were based on colour in Experiment 1, and on shape in Experiment 2. The stimuli were presented in one or other visual field, and the subjects responded with the fingers of one or other hand, allowing the differences in reaction time between crossed and uncrossed responses (CUD) to be calculated. For the normal subjects the CUD tended to diminish with the complexity of the tasks, suggesting that both hemispheres were increasingly involved. Unlike R.B. and the normal controls, who made virtually no errors, L.B. had increasing difficulty as task complexity increased. He was better able to transfer information from the right to the left hemisphere than vice versa, but an analysis of his accuracy under the crossed conditions showed that the amount transferred was always well under one bit. This confirms previous evidence that L.B. has very limited subcortical transfer of either colour or shape.
MINOR MESH HEADINGS: Adult-; Attention-physiology; Corpus-Callosum-abnormalities; Corpus-Callosum-surgery; Discrimination-Learning-physiology; Laterality-physiology; Middle-Age; Psychomotor-Performance-physiology; Reaction-Time-physiology; Reference-Values
MAJOR MeSH HEADINGS: *Color-Perception-physiology; *Corpus-Callosum-physiopathology; *Dominance,-Cerebral-physiology; *Pattern-Recognition,-Visual-physiology; *Transfer-Psychology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20083580
UPDATE CODE: 200004