Literature search at Indiana University, Bloomington, Indiana
Record 1 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.
AUTHOR(S): Hendriks-YM; Laan-LA; Vielvoye-GJ; van-Haeringen-A
ADDRESS OF AUTHOR: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Sep 10; 86(2): 183-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe two sisters (ages 10 and 3 years, respectively) with a normal development and a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus. Neither girl has distinctive physical anomalies. In the oldest girl, there was a hearing loss of 80 dB bilaterally, and the most severe loss on audiogram was seen at 2,000-4,000 Hz. In the youngest girl, there was a hearing loss of 100 dB bilaterally. Above 2,000 Hz no neural reactions were seen. Cerebral magnetic resonance imaging in one girl and computed tomography in the other showed a partial agenesis of the corpus callosum and a cyst in the pineal region, causing an aqueduct stenosis by compression and consequent hydrocephalus. The parents have normal hearing, and brain magnetic resonance imaging showed no abnormalities. They are nonconsanguineous but from the same small village. This is the first report of a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, and an arachnoid cyst. The pattern of inheritance is probably autosomal recessive. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adult-; Arachnoid-Cysts-genetics; Child-; Child,-Preschool; Deafness-congenital; Deafness-genetics; Family-Health; Hydrocephalus-genetics; Hydrocephalus-pathology
MAJOR MeSH HEADINGS: *Arachnoid-Cysts-pathology; *Corpus-Callosum-abnormalities; *Deafness-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999382204
UPDATE CODE: 199912
Record 2 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: Dissociation of the pathways mediating ipsilateral and contralateral motor-evoked potentials in human hand and arm muscles.
AUTHOR(S): Ziemann-U; Ishii-K; Borgheresi-A; Yaseen-Z; Battaglia-F; Hallett-M; Cincotta-M; Wassermann-EM
ADDRESS OF AUTHOR: Human Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. ziemann@codon.nih.gov
SOURCE (BIBLIOGRAPHIC CITATION): J-Physiol-Lond. 1999 Aug 1; 518 ( Pt 3): 895-906
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3751
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: 1. Growing evidence points toward involvement of the human motor cortex in the control of the ipsilateral hand. We used focal transcranial magnetic stimulation (TMS) to examine the pathways of these ipsilateral motor effects. 2. Ipsilateral motor-evoked potentials (MEPs) were obtained in hand and arm muscles of all 10 healthy adult subjects tested. They occurred in the finger and wrist extensors and the biceps, but no response or inhibitory responses were observed in the opponens pollicis, finger and wrist flexors and the triceps. 3. The production of ipsilateral MEPs required contraction of the target muscle. The threshold TMS intensity for ipsilateral MEPs was on average 1.8 times higher, and the onset was 5.7 ms later (in the wrist extensor muscles) compared with size-matched contralateral MEPs. 4. The corticofugal pathways of ipsilateral and contralateral MEPs could be dissociated through differences in cortical map location and preferred stimulating current direction. 5. Both ipsi- and contralateral MEPs in the wrist extensors increased with lateral head rotation toward, and decreased with head rotation away from, the side of the TMS, suggesting a privileged input of the asymmetrical tonic neck reflex to the pathway of the ipsilateral MEP. 6. Large ipsilateral MEPs were obtained in a patient with complete agenesis of the corpus callosum. 7. The dissociation of the pathways for ipsilateral and contralateral MEPs indicates that corticofugal motor fibres other than the fast-conducting crossed corticomotoneuronal system can be activated by TMS. Our data suggest an ipsilateral oligosynaptic pathway, such as a corticoreticulospinal or a corticopropriospinal projection as the route for the ipsilateral MEP. Other pathways, such as branching of corticomotoneuronal axons, a transcallosal projection or a slow-conducting monosynaptic ipsilateral pathway are very unlikely or can be excluded.
MINOR MESH HEADINGS: Adolescence-; Adult-; Arm-innervation; Corpus-Callosum-abnormalities; Corpus-Callosum-physiology; Electric-Stimulation; Electromagnetic-Fields; Evoked-Potentials-physiology; Fingers-innervation; Fingers-physiology; Hand-innervation; Laterality-physiology; Motor-Neurons-physiology; Muscle,-Skeletal-innervation; Neural-Pathways-physiology; Wrist-innervation; Wrist-physiology
MAJOR MeSH HEADINGS: *Arm-physiology; *Hand-physiology; *Movement-physiology; *Muscle,-Skeletal-physiology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999350522
UPDATE CODE: 199912
Record 3 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.
AUTHOR(S): Mutchinick-OM; Shaffer-LG; Kashork-CD; Cervantes-EI
ADDRESS OF AUTHOR: Departamento de Genetica, Instituto Nacional de la Nutricion Salvador Zubiran, Mexico, D.F. osvaldo@servidor.unam.mx
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Jul 16; 85(2): 99-104
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13-->pter, and 17p13.3-->pter. In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat chromosome complement. Cytogenetic studies of the family confirmed a balanced reciprocal translocation (5;17)(p13.1;p13.3) in her mother, maternal grandfather, maternal aunt, and a female first cousin. Fluorescence in situ hybridization studies on the mother and the proposita using three probes, which map to distal 17p, confirmed the reciprocal translocation in the mother and a terminal deletion in the patient, which resulted in the retention of LIS1 and D17S379 loci and deletion of the 17p telomere. These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome.
MINOR MESH HEADINGS: Child-; Facies-; In-Situ-Hybridization,-Fluorescence; Karyotyping-; Pedigree-; Phenotype-; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-17; *Chromosomes,-Human,-Pair-5; *Gene-Deletion; *Proteins-genetics; *Telomere-; *Trisomy-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: LIS1-protein; Proteins
MEDLINE ACCESSION NUMBER: 1999333318
UPDATE CODE: 199912
Record 4 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: [Clinical and prognostic heterogeneity in Aicardi's syndrome: a description of two cases]
ORIGINAL TITLE: Heterogeneidad clinica y pronostica en el sindrome de Aicardi: a proposito de dos casos.
AUTHOR(S): Cruz-Velarde-JA; Garzo-C; Garcia-Munoz-S; Gil-R; Munoz-L
ADDRESS OF AUTHOR: Servicio de Neurologia, Hospital Universitario Gregorio Maranon, Madrid, Espana.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Neurol. 1999 Apr 16-30; 28(8): 784-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: INTRODUCTION: Aicardi's syndrome is characterized by infantile spasms, agenesis of the corpus callosum and ocular lesions. Clinically it presents as severe mental retardation, severe limitation of motor development and of language, with a prognosis of survival for only a few months or years. We present two new cases of this uncommon syndrome and describe the heterogeneity of its clinical and prognostic severity. CLINICAL CASES: Case 1. A ten-month old patient had flexion spasms of the limbs at the age of 4 months, bilateral corioretinal lesions and generalized hypoplasia of the corpus callosum. During the clinical course of the disorder, the epileptic crises were controlled, there was mental retardation, the head was held steady and the baby could sit. Case 2. A nine year old patient had had flexion spasms when aged 2 months, had bilateral retinal lesions and generalized hypoplasia of the corpus callosum. During his clinical course the epileptic crises were controlled, there was severe mental retardation, the patient could pay attention and collaborate, articulate single words, walk on his own and manipulate objects. CONCLUSION: Aicardi's syndrome should be considered to be a syndrome in which the clinical findings and prognosis are heterogeneous, as seen from new cases with less clinical and functional limitation than the patients first described.
MINOR MESH HEADINGS: Developmental-Disabilities-diagnosis; English-Abstract; Infant-; Magnetic-Resonance-Imaging; Mental-Retardation; Prognosis-; Syndrome-
MAJOR MeSH HEADINGS: *Corpus-Callosum-abnormalities; *Epilepsy,-Myoclonic-diagnosis; *Eye-Diseases-diagnosis; *Spasms,-Infantile-diagnosis
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999291502
UPDATE CODE: 199912
Record 5 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
AUTHOR(S): del-Campo-M; Hall-BD; Aeby-A; Nassogne-MC; Verloes-A; Roche-C; Gonzalez-C; Sanchez-H; Garcia-Alix-A; Cabanas-F; Escudero-RM; Hernandez-R; Quero-J
ADDRESS OF AUTHOR: Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, California 92103-8446, USA. mdelcampo@ucsd.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Aug 27; 85(5): 479-85
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adult-; Fatal-Outcome; Infant-; Syndrome-
MAJOR MeSH HEADINGS: *Albinism-genetics; *Corpus-Callosum-abnormalities; *Developmental-Disabilities-genetics; *Genes,-Recessive
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 1999362344
UPDATE CODE: 199911
Record 6 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12
TITLE: Clinical and behavioral characteristics in FG syndrome.
AUTHOR(S): Graham-JM Jr; Superneau-D; Rogers-RC; Corning-K; Schwartz-CE; Dykens-EM
ADDRESS OF AUTHOR: Ahmanson Department of Pediatrics, UCLA University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. jgraham@xchg.peds.csmc.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Aug 27; 85(5): 470-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Abnormalities,-Multiple-physiopathology; Adult-; Child-; Child,-Preschool; Corpus-Callosum-abnormalities; Diagnosis,-Differential; Genes,-Recessive; Personality-Tests; Prader-Willi-Syndrome-genetics; Prader-Willi-Syndrome-psychology; Psychological-Tests; Syndrome-; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Abnormalities,-Multiple-psychology; *Mental-Retardation-genetics; *X-Chromosome
CHECKTAGS: Comparative-Study; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM08243GMNIGMS; P01HD2265706HDNICHD
MEDLINE ACCESSION NUMBER: 1999362342
UPDATE CODE: 199911
Record 7 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
AUTHOR(S): Chitayat-D; Fernandez-B; Gardner-A; Moore-L; Glance-P; Dunn-M; Chun-K; Sgro-M; Ray-P; Allingham-Hawkins-D
ADDRESS OF AUTHOR: Department of Obstetrics and Gynecology, Toronto Hospital, Ontario, Canada. dchitayat@torhosp.toronto.on.ca
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Jun 11; 84(5): 401-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for Down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. Seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. Brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by DNA mutation analysis of the FGFR3 gene in both cases.
MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Achondroplasia-diagnosis; Adult-; Amniocentesis-; Bone-and-Bones-radiography; DNA-Mutational-Analysis; Osteochondrodysplasias-diagnosis; Pregnancy-; Pregnancy-Outcome; Prenatal-Diagnosis
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Achondroplasia-genetics; *Fibroblast-Growth-Factor-genetics; *Heterozygote-; *Mutation-; *Osteochondrodysplasias-genetics; *Proto-Oncogene-Proteins-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 62031-54-3
NAME OF SUBSTANCE: proto-oncogene-protein-int-2; Proto-Oncogene-Proteins; Fibroblast-Growth-Factor
MEDLINE ACCESSION NUMBER: 1999287138
UPDATE CODE: 199910
Record 8 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: [A case of symptomatic interhemispheric arachnoid cyst in the elderly]
AUTHOR(S): Tomabechi-M; Takano-K; Suzuki-N; Daita-G
ADDRESS OF AUTHOR: Department of Neurosurgery, Kitami Red Cross Hospital, Hokkaidou, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): No-Shinkei-Geka. 1999 Apr; 27(4): 377-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-2603
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: The incidence of interhemispheric cyst is rare. There have been only 12 cases reported in adults since the advent of CT. We encountered a case of an interhemispheric arachnoid cyst in a 54-year-old patient who had developed paraparesis. Excision of the cystic wall produced a satisfactory result. The CT and MRI scans were not contributory to histological differentiation of the lesions. According to the literature, however, it is highly likely that these patients are suffering from an arachnoid cyst, when the interhemispheric cyst without agenesis of the corpus callosum occurs in adults.
MINOR MESH HEADINGS: Arachnoid-Cysts-diagnosis; English-Abstract; Magnetic-Resonance-Imaging; Middle-Age
MAJOR MeSH HEADINGS: *Arachnoid-Cysts-pathology
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999277203
UPDATE CODE: 199909
Record 9 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice.
AUTHOR(S): Demyanenko-GP; Tsai-AY; Maness-PF
ADDRESS OF AUTHOR: Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599-7260, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurosci. 1999 Jun 15; 19(12): 4907-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0270-6474
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, mental retardation, adducted thumbs, spasticity, and hydrocephalus. A mouse model with a null mutation in the L1 gene (Cohen et al., 1997) was analyzed for brain abnormalities by Nissl and Golgi staining and immunocytochemistry. In the motor, somatosensory, and visual cortex, many pyramidal neurons in layer V exhibited undulating apical dendrites that did not reach layer I. The hippocampus of L1 mutant mice was smaller than normal, with fewer pyramidal and granule cells. The corpus callosum of L1-minus mice was reduced in size because of the failure of many callosal axons to cross the midline. Enlarged ventricles and septal abnormalities were also features of the mutant mouse brain. Immunoperoxidase staining showed that L1 was abundant in developing neurons at embryonic day 18 (E18) in wild-type cerebral cortex, hippocampus, and corpus callosum and then declined to low levels with maturation. In the E18 cortex, L1 colocalized with microtubule-associated protein 2, a marker of dendrites and somata. These new findings suggest new roles for L1 in the mechanism of cortical dendrite differentiation, as well as in guidance of callosal axons and regulation of hippocampal development. The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome.
MINOR MESH HEADINGS: Antigens,-Surface-genetics; Axons-pathology; Axons-physiology; Brain-Chemistry-genetics; Cerebral-Cortex-abnormalities; Cerebral-Cortex-embryology; Cerebral-Cortex-pathology; Cerebral-Ventricles-embryology; Cerebral-Ventricles-pathology; Corpus-Callosum-abnormalities; Corpus-Callosum-embryology; Corpus-Callosum-pathology; Dendrites-pathology; Dendrites-physiology; DNA-Nucleotidylexotransferase-analysis; Genotype-; Hippocampus-cytology; Hippocampus-embryology; Immunoenzyme-Techniques; In-Situ-Nick-End-Labeling; Mental-Retardation-genetics; Mental-Retardation-pathology; Mice-; Mice,-Knockout; Pyramidal-Cells-enzymology; Pyramidal-Cells-ultrastructure; Septal-Nuclei-abnormalities; Septal-Nuclei-embryology; Septal-Nuclei-pathology
MAJOR MeSH HEADINGS: *Cerebral-Ventricles-abnormalities; *Hippocampus-abnormalities; *Membrane-Glycoproteins-genetics; *NCAM-genetics; *Pyramidal-Cells-pathology
CHECKTAGS: Animal; Female; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HD35170HDNICHD; NS26620NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.7.31; 0; 0; 0; 0
NAME OF SUBSTANCE: DNA-Nucleotidylexotransferase; Antigens,-Surface; L1-antigen; Membrane-Glycoproteins; NCAM
MEDLINE ACCESSION NUMBER: 1999296861
UPDATE CODE: 199909
Record 10 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.
AUTHOR(S): Schuffenhauer-S; Leifheit-HJ; Lichtner-P; Peters-H; Murken-J; Emmerich-P
ADDRESS OF AUTHOR: Department of Medical Genetics, Children's Hospital, Ludwig-Maximilians-University Munich, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1999 Mar; 36(3): 233-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.
MINOR MESH HEADINGS: Child,-Preschool; In-Situ-Hybridization,-Fluorescence
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-14; *DNA-Binding-Proteins-genetics; *Transcription-Factors-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: DNA-Binding-Proteins; Pax-9-protein; Transcription-Factors
MEDLINE ACCESSION NUMBER: 1999219546
UPDATE CODE: 199908
Record 11 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Location of the primary motor cortex in schizencephaly.
AUTHOR(S): Lee-HK; Kim-JS; Hwang-YM; Lee-MJ; Choi-CG; Suh-DC; Lim-TH
ADDRESS OF AUTHOR: Department of Radiology, Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1999 Jan; 20(1): 163-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND AND PURPOSE: Functional reorganization of the brain can result from congenital brain disorders as well as from brain infarction. The purpose of our study was to use functional MR imaging to determine whether reorganization of brain function occurs in patients with schizencephaly. METHODS: Four patients with schizencephaly (three right-handed, one ambidextrous) presented with seizures. Associated lesions included agenesis of the corpus callosum (n = 1) and absence of the septum pellucidum (n = 1). Functional MR imaging was performed in each patient using a single-section fast low-angle shot (FLASH) blood oxygen level-dependent (BOLD) technique at 1.5 T in a standard head coil. The motor cortex was initially identified on an axial T1-weighted anatomic image. Thirty consecutive images were obtained during a motor task consisting of repetitive finger-to-thumb opposition. The percentage of change in increased signal intensity was calculated for the primary motor area. An ipsilateral activation index was used to compare the affected with the unaffected hemisphere. RESULTS: The percentage of change in increased signal intensity in the area of activation ranged from 4.8% +/- 0.9 to 9.2% +/- 1.2 (mean, 5.6% +/- 1.5). The ipsilateral activation index in the affected hemisphere was 0.00 to 0.38, whereas that in the unaffected hemisphere was 15.4 to infinity. The difference in the ipsilateral activation index between each hemisphere was considered significant. CONCLUSION: Our results showed increased activation in the unaffected hemisphere in patients with schizencephaly, which may reflect functional reorganization of the motor area in patients with this congenital disorder.
MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-Mapping
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Magnetic-Resonance-Imaging; *Motor-Cortex-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999139655
UPDATE CODE: 199907
Record 12 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.
AUTHOR(S): Mohandas-TK; Park-JP; Spellman-RA; Filiano-JJ; Mamourian-AC; Hawk-AB; Belloni-DR; Noll-WW; Moeschler-JB
ADDRESS OF AUTHOR: Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire 03767, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Feb 12; 82(4): 294-300
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype. We report on a patient who presented with nonspecific developmental delay and partial agenesis of the rostral corpus callosum. Fluorescence in situ hybridization (FISH) studies using probes specific for the PWS/AS region demonstrated a double signal on one chromosome 15, indicating the presence of an interstitial duplication of proximal 15q involving the PWS/ AS region in the patient. Parental chromosomes were normal with FISH studies. Methylation analysis at exon alpha of the SNRPN locus showed a maternal band at 4.2 kb and a paternal band of apparent double intensity at 0.9 kb, suggestive of one copy of the maternal allele and two copies of the paternal allele in the patient. Microsatellite analysis was informative at the GABRB3 locus in the family, which showed the inheritance of two different paternal alleles and a maternal allele in the patient consistent with the origin of this duplication from an unequal crossing over between the two chromosome 15 homologs in the father. This is the first report of an abnormal phenotype associated with a paternally derived duplication of proximal 15q shown to contain the PWS/AS region by molecular techniques.
MINOR MESH HEADINGS: Autoantigens-genetics; Child,-Preschool; Corpus-Callosum-abnormalities; Corpus-Callosum-radiography; Diagnosis,-Differential; In-Situ-Hybridization,-Fluorescence; Methylation-; Microsatellite-Repeats-genetics; Phenotype-; Prader-Willi-Syndrome-genetics
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-15-genetics; *Developmental-Disabilities-genetics; *Gene-Duplication
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Autoantigens; Sm-antigen
MEDLINE ACCESSION NUMBER: 1999158470
UPDATE CODE: 199907
Record 13 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum.
AUTHOR(S): Cameron-FJ; Khadilkar-VV; Stanhope-R
ADDRESS OF AUTHOR: Department of Endocrinology, Great Ormond Street Hospital for Sick Children NHS Trust. cameronf@cryptic.rch.unimelb.edu.au
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1999 Feb; 158(2): 97-102
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The purpose of this study was to review systematically a series of patients with congenital midline brain defects and pituitary dysfunction in early childhood and to quantitate the degree of dysfunction and clinical outcome. This study was a retrospective analysis of case notes of patients with pituitary dysfunction associated with either a midline cerebral anomaly and/or optic nerve hypoplasia. Forty patients were studied: 2 with semilobar holoprosencephaly, 2 with lobar holoprosencephaly, 18 with septo-optic dysplasia with an intact septum pellucidum, 7 with septo-optic dysplasia with an absent septum pellucidum, 7 with agenesis of the corpus callosum and 4 patients with isolated pituitary hypoplasia. An early age of diagnosis, feeding difficulties, neurodevelopmental disability, visual impairment and seizures were common occurrences. Despite disordered neuro-anatomy, most seizure disorders were caused by hypoglycaemia or hypernatraemia. Hypotensive/hypoglycaemic crises accounted for two out of three deaths within the study population. Most of patients had multiple pituitary hormone deficiency with growth hormone and adrenocorticotrophic hormone deficiency occurring most commonly. Unequivocal isolated hypothalamic dysfunction was an uncommon finding. In congenital midline brain malformation there is a spectrum of disordered neuro-anatomy associated with variable pituitary dysfunction. Clinical manifestations such as convulsions and developmental delay may be due to disordered metabolism and/or neuro-anatomy. CONCLUSION: Children with congenital midline brain defects frequently manifest convulsions, neurodevelopmental disability and poor growth due to disordered metabolism and/or neuro-anatomy. Treating clinicians must be aware of the complex, dynamic neurological and metabolic nature of these patients and their potential for early demise.
MINOR MESH HEADINGS: Abnormalities,-Multiple-blood; Abnormalities,-Multiple-physiopathology; Adolescence-; Child-; Child,-Preschool; Holoprosencephaly-blood; Holoprosencephaly-epidemiology; Holoprosencephaly-physiopathology; Hormones-blood; Hormones-deficiency; Hypopituitarism-blood; Hypopituitarism-epidemiology; Hypopituitarism-physiopathology; Infant-; Infant,-Newborn; Retrospective-Studies
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-epidemiology; *Brain-abnormalities; *Hypopituitarism-congenital; *Pituitary-Gland-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Hormones
MEDLINE ACCESSION NUMBER: 1999156390
UPDATE CODE: 199906
Record 14 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Ultrasonographic differential diagnosis of fetal intracranial interhemispheric cysts.
AUTHOR(S): Vergani-P; Locatelli-A; Piccoli-MG; Ceruti-P; Patane-L; Paterlini-G; Ghidini-A
ADDRESS OF AUTHOR: Departments of Obstetrics and Gynecology, Istituto di Scienze Biomediche San Gerardo, Monza, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Obstet-Gynecol. 1999 Feb; 180(2 Pt 1): 423-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9378
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: Ultrasonographic differentiation between intracranial supratentorial interhemispheric pathologic cystlike lesions and those related to physiologic median structures is essential because the latter have no clinical relevance, whereas the former may carry a poor prognosis. We reviewed our experience with 19 consecutive cases of interhemispheric hypoechoic lesions without parenchymal involvement diagnosed between January 1990 and June 1997 to establish their clinical significance and provide prenatal ultrasonographic criteria to distinguish between pathologic cystlike lesions and those related to physiologic midline structures. STUDY DESIGN: All patients underwent targeted prenatal scans of intracranial anatomy to establish the relationship between the fluid collections and the surrounding parenchymal and ventricular structures. In addition, a detailed anatomic survey was performed to rule out associated malformations. Follow-up, including neurologic examination, imaging, autopsy evaluation, or a combination was performed in all cases. Statistical analysis used the Wilcoxon rank sum test, the Fisher exact test, and the chi2 test for trend. P <.05 was considered significant. RESULTS: Cystlike lesions related to physiologic median structures (n = 12) included enlargement of the cavum septi pellucidi (n = 3), enlargement of the cavum vergae (n = 2), and cysts of the velum interpositum (n = 7). These lesions were unilocular and had a median size of 10 mm (range 10-30 mm); they resolved in 5 cases and remained stable in the remainder. They were not associated with overt abnormalities, other than borderline ventriculomegaly in 2 cases. Pediatric follow-up (median 26 months, range 3-84 months) showed normal neurodevelopment in all cases. Pathologic cystlike lesions (n = 7) were significantly larger (median 40 mm, range 10-80 mm, P =.004) and had a significantly worsening trend, growing more at serial prenatal ultrasonographic examinations (P =.039) than fluid collections related to physiologic median structures. Moreover, prenatal ultrasonographic evidence of associated intracranial abnormalities, in the form of partial or total agenesis of the corpus callosum and overt hydrocephalus, was present in 5 of 7 cases of pathologic cystlike lesions and in none of the 12 related to physiologic structures (P =.002). Median gestational age at diagnosis was not different between those with cystlike lesions related to physiologic median structures and those with pathologic lesions (30 and 31 weeks, respectively). Among the latter group, 1 pregnancy was voluntarily terminated, 1 infant died at 4 months of age, 2 infants had neurodevelopmental delay, and 3 infants were neurologically healthy at a mean follow-up of 43 months. Cyst shunting was necessary in 5 of 6 cases. CONCLUSIONS: Interhemispheric cystlike lesions related to physiologic structures can be prenatally distinguished from pathologic fluid collections on the basis of location, cyst size, change in size with time, and absence of associated anomalies.
MINOR MESH HEADINGS: Diagnosis,-Differential; Gestational-Age; Pregnancy-; Septum-Pellucidum-ultrasonography
MAJOR MeSH HEADINGS: *Brain-Diseases-ultrasonography; *Cysts-ultrasonography; *Fetal-Diseases-ultrasonography; *Ultrasonography,-Prenatal
CHECKTAGS: Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999143042
UPDATE CODE: 199905
SUBSET: AIM
Record 15 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada).
AUTHOR(S): Heyer-E
ADDRESS OF AUTHOR: Laboratoire d'Anthropologie Biologique, CNRS UMR 152, Musee de l'Homme, Paris, France. eheyer@mnhn.fr
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Biol. 1999 Feb; 71(1): 99-109
INTERNATIONAL STANDARD SERIAL NUMBER: 0018-7143
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: High frequencies of some rare inherited recessive disorders can be found in the Saguenay region of Quebec, Canada. Four disorders have a carrier frequency of about 0.04 (in the range 0.035-0.05): pseudovitamin D-dependent rickets, hereditary tyrosinemia type 1, Charlevoix-Saguenay spastic ataxia, and sensorimotor polyneuropathy with or without agenesis of the corpus callosum. Molecular data suggest that only 1 mutation has been introduced into the population since its founding in the 17th century. The carrier frequencies are much higher than one would expect under a theoretical model that includes variance in family size and population growth (Thompson and Neel 1978). I present a methodology called allele dropping to test the hypothesis that only 1 founder introduced a given mutation. This study is based on 891 ascending genealogies and enables one to measure the extent of allele frequency changes resulting from the demographic history of the population. Two scenarios are tested: neutral and lethal alleles. Lethality has a minor effect because the alleles never reach a frequency high enough for selection to be strong. Twenty-five founders have a probability greater than 1% that a lethal mutation they introduced into the population will reach a carrier frequency between 0.035 and 0.05 in the contemporary population. Moreover, 2 founders have a probability greater than 20% that a lethal allele they introduced into the population will reach this target frequency. Therefore the simplest hypothesis that 1 founder introduced 1 disorder into the population is consistent.
MINOR MESH HEADINGS: Chi-Square-Distribution; Genes,-Recessive; Hereditary-Diseases-epidemiology; Models,-Genetic; Mutation-; Population-Surveillance; Quebec-
MAJOR MeSH HEADINGS: *Gene-Frequency; *Genetic-Heterogeneity; *Hereditary-Diseases-genetics; *Heterozygote-
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999138005
UPDATE CODE: 199905
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