bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relation of schizophrenia and panic disorder: Evidence from a controlled family study
Authors: Heun R. , Maier W. 
Published: June 2005

AbstractThe intention of this controlled family study was to evaluate reasons for comorbidity of schizophrenia and panic disorder. Observed rates of psychiatric disorders in first‐degree relatives of patients and of controls were compared with rates predicted by possible hypotheses explaining comorbidity. The sample consisted of 59 patients with schizophrenia (including seven with schizophreni‐form disorder), 54 patients with panic disorder (with or without agoraphobia), 29 comorbid patients with lifetime diagnoses of panic disorder and schizophrenia (or schizo‐phreniform disorder, 2 patients) and 109 controls, and their 1068 first‐degree relatives. Information from clinical performance, clinical and structured interviews, and from family history was joined to establish DSM‐III‐R diagnoses in patients and relatives. As expected, schizophrenia and panic disorder were found to be familial. The hypothesis, that the familial load for primary panic disorders distinguished schizophrenics (4.3%) and controls (0.9%), could be verified (P < 0.01); the familial aggregation for primary panic disorders did not distinguish schizophrenics and subjects with panic disorder. However, the risk for schizophrenia was not enhanced in relatives of patients with panic disorder (0%) in comparison to controls (0.3%, P > 0.05). The observed familial aggregation pattern of psychiatric disorders in relatives of schizophrenics, panic patients, comorbid patients, and controls refers to an etiological relation of schizophrenia and panic disorder, or at least to a relationship of subgroups of these disorders. © 1995 Wiley‐Liss, Inc.
Constitutive heterochromatin of chromosome 1 and Duffy blood group alleles in schizophrenia
Authors: Kosower N. S. , Gerad L. , Goldstein M. , Parasol N. , Zipser Y. , Ragolsky M. , Rozencwaig S. , Elkabetz E. , Abramovitch Y. , Lerer B. , Weizman A. 
Published: June 2005

AbstractCytogenetic analysis was carried out in unrelated schizophrenic patients, unrelated controls and patients and family members in multiplex families. The size distribution of chromosome 1 heterochromatic region (1qH, C‐band variants) among 21 unrelated schizophrenic patients was different from that found in a group of 46 controls. The patient group had 1qH variants of smaller size than the control group (P < 0.01). Incubation of phytohemagglutinin‐treated blood lymphocytes with 5‐azacytidine (which causes decondensation and extension of the heterochromatin) led to a lesser degree of heterochromatin decondensation in a group of patients than in the controls (7 schizophrenic, 9 controls, P < 0.01). The distribution of phenotypes of Duffy blood group system [whose locus is linked to the 1qH region (Donahue et al.: Proc Natl Acad Sci USA 61:949–955, 1968; Rouleau et al.: Genomics 7:313–318, 1990)] among 28 schizophrenic patients was also different from that in the general population. Cosegregation of schizophrenia with a 1qH (C‐band) variant and Duffy blood group allele was observed in one of six multiplex families. The overall results suggest that alterations within the Duffy/1qH region are involved in schizophrenia in some cases. This region contains the locus of D5 dopamine receptor pseudogene 2 (1q21.1), which is transcribed in normal lymphocytes (Takahashi et al.: FEBS Lett 314:23–25, 1992). © 1995 Wiley‐Liss, Inc.
Mutation scan of the D1 dopamine receptor gene in 22 cases of bipolar I disorder
Authors: Shah Meeta , Coon Hilary , Holik John , Hoff Mark , Helmer Velma , Panos Patrick , Byerley William 
Published: June 2005

AbstractIn a previous study [Coon et al., Am J Hum Genet 52:1234–1249, 1993], we found suggestive evidence of linkage between manic‐depressive illness (MDI) in eight multiplex pedigrees and D5S62, a DNA marker mapping to the telomeric region of 5q. As the D1 dopamine receptor gene (DRD1) maps to this region and as alterations in dopaminergic neurotransmission have been indirectly implicated in the pathogenesis of MDI, we directly searched for mutations in the coding region of the DRD1 gene in 22 unrelated cases of bipolar I (BPI) disorder derived from multiplex families. Using single strand conformation polymorphism (SSCP) analysis, we did not observe any abnormal SSCP variants in the BPI cases that differed from controls. © 1995 Wiley‐Liss, Inc.
Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: Identification of polymorphisms but lack of functionally significant sequence changes
Authors: Liu Qiang , Sobell Janet L. , Heston Leonard L. , Sommer Steve S. 
Published: June 2005

AbstractTo determine whether mutations in the D1 dopamine receptor (D1 DR) gene are associated with schizophrenia, the coding sequence was examined in 106 Caucasian, 11 African‐American, 8 Asian, and 6 Native American patients. Approximately 350 kb of genomic sequence was screened by dideoxy fingerprinting, a method related to single strand conformational polymorphism (SSCP) analysis that detects virtually 100% of sequence changes [Sarkar et al., 1992: Genomics 13:441–443; Liu and Sommer, 1994: PCR Methods and Applications 4:97–108]. One polymorphism was identified in Asians and one in Caucasians, but neither altered the amino acid sequence (Leu66, and Ser421, respectively). In addition, a previously reported polymorphism in the 5′ untranslated region of exon 2 at bp −48 was found to be common, with an allele frequency of approximately 40% in Caucasians of Western European descent. Based on the fact that no sequence changes of likely functional significance were identified, these data suggest that mutations affecting the structure of the D1 dopamine receptor protein are uncommon and are unlikely to contribute significantly to the genetic predisposition to schizophrenia. The D1DR gene also was examined in eight alcoholics, including 3 African‐Americans and 1 Native American, but no sequence changes were identified. © 1995 Wiley‐Liss, Inc.
Type I bipolar disorder associated with a fragile site on chromosome 1
Authors: Turecki G. , de A. C. Smith M. , Mari J. J. 
Published: June 2005

AbstractThe objective of this paper is to study the association between chromosomal fragile sites and type I bipolar disorder. This case‐control study compares bipolar patients with normal controls. Ten cases of type I bipolar disorder diagnosed according to DSM‐III‐R criteria and the Composite International Diagnostic Interview (CIDI) were selected from the Escola Paulista affective disorders outpatient clinic and 10 healthy controls (CIDI negative for psychiatric diagnoses) matched for sex and age were drawn from the otorhinolaryngologic outpatient clinic of the same hospital. The cytogenetic analysis was carried out with blood lymphocytes, which were cultured in a folic acid‐‐free medium. A total of 100 mitoses per subject were blindly analyzed to the psychiatric diagnostic assignment, and fragile sites were identified according to a minimum expected frequency of events per band in conformity with a Poisson distribution. A higher frequency of chromosomal lesions for cases than controls was found for the following bands: 1q32, 5q31, and 11q23, the 1q32 being considered a fragile site. Although no evident neuropsychiatric etiological component has been mapped to the 1q32 region so far, this finding may lead to further investigation of a possible linkage between genetic markers of this region and bipolar disorder. © 1995 Wiley‐Liss, Inc.
Spinocerebellar degeneration and cerebral hypomyelination in a family
Authors: Chatkupt Sansnee , Wolansky Leo J. , Jotkowitz Annette , Shih Ling Y. , Cook Stuart D. 
Published: June 2005

AbstractThe proband is a 24‐year‐old woman who developed symptoms of a spinocerebellar degeneration in early childhood. Neurological examination revealed normal cognitive function, optic atrophy, dysarthria, titubation, action tremors, increased deep tendon reflexes, Babinski's signs, and a spastic scissoring gait. The magnetic resonance imaging (MRI) showed an abnormal increased signal on long TR images involving white matter throughout the cerebral hemispheres, most striking in the subcortical white matter, and to a lesser degree in the brainstem, compatible with diffuse hypomyelinating or dysmyelinating diseases. Metabolic and chromosomal studies were normal. Her 49‐year‐old mother developed similar symptoms in her 20s and is now wheelchair‐bound. Findings on neurological examination and MRI were similar to her daughter but more severe. The proband's maternal grandfather had a female cousin who had a neurological illness beginning in her 20s with similar symptoms and signs and died at the age of 44 years.Spinocerebellar degenerations are a group of syndromes with similar clinical manifestations but heterogeneous etiology. We report a family with spinocerebellar degeneration with distinct MRI findings compatible with hypomyelination or dysmyelination which has not heretofore been described. This family may represent a new spinocerebellar syndrome due to an abnormality of as yet an undetermined gene. © 1995 Wiley‐Liss, Inc.
On the role of brain serotonin in expression of genetic predisposition to catalepsy in animal models
Authors: Popova N. K. , Kulikov A. V. 
Published: June 2005

AbstractThe activity of the rate‐limiting enzyme of serotonin biosynthesis, tryptophan hydroxylase, in the striatum but not in the hippocampus and midbrain of rats bred for predisposition to catalepsy was higher than in nonselected rats. Mice of the highly susceptible to catalepsy CBA strain also differed from other noncataleptic mouse strains by the highest tryptophan hydroxylase activity in the striatum. Inhibition of tryptophan hydroxylase with p‐chlorophenylalanine and p‐chloromethamphetamine drastically decreased immobility time in hereditary predisposed to catalepsy animals. A decrease in the 3H‐ketanserin specific binding in the striatum of cataleptic rats and CBA mice was found. It was suggested that this decrease in 5‐HT2A serotonin receptor density represented a down regulation of the receptors due to an activation of serotonergic transmission in striatum. It is suggested that hereditary catalepsy may be resulted from genetic changes in the regulation of serotonin metabolism in striatum. © 1995 Wiley‐Liss, Inc.
Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone
Authors: Leonard Christiana M. , Martinez Pedro , Weintraub Bruce D. , Hauser Peter 
Published: June 2005

AbstractObjective. Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Method. Forty‐three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl's transverse gyri (primary auditory cortex) were noted. Results. There was a significantly increased frequency of anomalous Sylvian fissures in the left hemisphere in males with RTH (AM: 70%; AF: 30%; UM: 28% UF: 28%). Also, there was an increased frequency of anomalous Sylvian fissures on the left combined with multiple Heschl's gyri in either hemisphere in males with RTH (AM: 50%; AF: 9%; UM: 6%; UF: 0%). However, RTH subjects with anomalies did not have an increased frequency of ADHD as compared with RTH subjects with no anomalies. Conclusions. Abnormal thyroid hormone action in the male fetus early during brain development may be associated with grossly observable cerebral anomalies of the left hemisphere. The effects of mutations in the thyroid receptor beta gene provide a model system for studying the complex interaction of genetic and non‐genetic factors on brain and behavioral development. © 1995 Wiley‐Liss, Inc.
Association and linkage studies of the TAQI A1 allele at the dopamine D2 receptor gene in samples of female and male alcoholics
Authors: Neiswanger Katherine , Hill Shirley Y. , Kaplan Barry B. 
Published: June 2005

AbstractTo address the controversy surrounding DRD2 and alcoholism, we performed linkage and association studies utilizing alcoholic men from high‐density families largely uncontaminated by other psychopathology and female alcoholics for whom secondary drug dependence (averaging 10 years later onset) was a prominent feature. The males and females were combined for a total of 52 alcoholics, and compared to 30 controls screened for the absence of alcoholism and other psychopathology, revealing a significant association between the frequency of the TaqI A1 allele and alcoholism. However, linkage and family‐based association studies conducted on 20 families of male alcoholics found no evidence for association or linkage between Taq A and alcoholism. The results of our population‐based association study, placed in the context of the literature, suggest that minimizing psychopathology in control groups is probably a more important explanation for divergent results than either sampling error or population stratification. When combined with the complete lack of within‐family evidence, we conclude that the association, while not appearing to be artifactual, is not specific to the alcoholism phenotype, per se. © 1995 Wiley‐Liss, Inc.
Occurrence of the Cys311 DRD2 variant in a pedigree multiply affected with panic disorder
Authors: Crawford Fiona , Hoyne Jonathan , Diaz Patricia , Osborne Aaron , Dorotheo Jocelyn , Sheehan David , Mullan Michael 
Published: June 2005

AbstractFollowing the detection of the rare DRD2 codon 311 variant (Ser→Cys) in an affected member from a large, multiply affected panic disorder family, we investigated the occurrence of this variant in other family members. The variant occurred in both affected and unaffected individuals. Further screening in panic disorder sib pairs unrelated to this family failed to detect the Cys311 variant. Our data suggests that this variant has no pathogenic role in panic disorder. © 1995 Wiley‐Liss, Inc.
Intelligence and achievement in children with extra X aneuploidy: A longitudinal perspective
Authors: Rovet J. , Netley C. , Bailey J. , Keenan M. , Stewart D. 
Published: June 2005

AbstractForty‐seven children (35 male, 12 female) identified as having a supernumerary X chromosome by neonatal screening were studied psychologically from childhood to late adolescence. This paper compares their findings relative to sibling controls on tests of intelligence and achievement collected over a 14‐year period. Children with a supernumerary X chromosome were found to score consistently below controls on Verbal IQ and subtests comprising the Verbal Comprehension factor but they did not differ on Performance IQ, which was in the normal range. At all ages, they showed poorer reading and arithmetic achievement; relative risk for reading and arithmetic impairment was 2.6 and 2.6 in males and 1.1 and 1.7 in females. Males with an extra X chromosome were more likely to receive special education than females, who more often failed a grade. Academic achievement was not affected in aneuploid children with higher levels of intelligence. Overall, these results suggest milder impairment than previously reported, particularly among trisomy X females. © 1995 Wiley‐Liss, Inc.
Association study between the dopamine D4 receptor gene and schizophrenia
Authors: Petronis Arturas , Macciardi Fabio , Athanassiades Andrew , Paterson Andrew D. , Verga Massimiliano , Meltzer Herbert Y. , Cola Philip , Buchanan Janet A. , Van Tol Hubert H. M. , Kennedy James L. 
Published: June 2005

AbstractThe dopamine D4 receptor is of major interest in schizophrenia research due to its high affinity for the atypical neuroleptic cloza‐pine and a high degree of variability in the receptor gene (DRD4). Although several genetic linkage analyses performed on schizophrenia multiplex families from different regions of the world have either excluded or failed to prove that DRD4 is a major genetic factor for the development of schizophrenia, analyses for moderate predisposing effects are still of significant interest. We performed a study examining differences in allele frequencies of 4 different DRD4 polymorphisms in schizophrenia patients and age, sex, and ethnic origin matched controls. None of these 4 polymorphisms showed evidence for genetic association with schizophrenia, although a trend towards excess of the allele with 7 repeats in the (48)n bp exon III polymorphism was observed. Complexities in the DRD4 genetic investigation and further analytic approaches are discussed. © 1995 Wiley‐Liss, Inc.
Sensory gating deficits in parents of schizophrenics
Authors: Waldo Merilyne , Myles‐Worsley Marina , Madison Alice , Byerley William , Freedman Robert 
Published: June 2005

AbstractAlthough schizophrenia clusters in families, it is not inherited in Mendelian fashion. This suggests that there may be alternative phenotypic expressions of genes that convey risk for schizophrenia, such as more elementary physiological or biochemical defects. One proposed phenotype is impaired inhibitory gating of the auditory evoked potential to repeated stimuli. Normally, the amplitude of the P50 response to the second stimulus is significantly less than the response to the first, but this gating of response is generally impaired in schizophrenia. Clinically unaffected individuals within a pedigree who have both an ancestral and descendant history of schizophrenia may be useful for studying whether this physiological defect is a possible alternative phenotype. We have studied inhibitory gating of the auditory P50 response to pairs of auditory stimuli in 17 nuclear families. In 11, there was one parent who had another relative with a chronic psychotic illness, in addition to the schizophrenic proband. All of the parents with family histories of schizophrenia had gating of the P50 response similar to their schizophrenia offspring, whereas only 7% of the parents without family history had gating of the P50 response in the abnormal range. These results support loss of gating of the auditory P50 wave as an inherited deficit related to schizophrenia and suggest that studies of parents may help elucidate the neurobiological expression of genes that convey risk for schizophrenia. © 1995 Wiley‐Liss, Inc.
Allele doses of apolipoprotein E type ϵ4 in sporadic late‐onset Alzheimer's disease
Authors: Lucotte Gérard , Aouizérate Annie , Gérard Nathalie , Turpin J. C. , Landais P. 
Published: June 2005

AbstractApoliprotein E, type ϵ4 allele (ApoE‐ϵ4) is associated with late‐onset sporadic Alzheimer's disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE‐ϵ4 in sporadic, late‐onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. © 1995 Wiley‐Liss, Inc.
APOE genotype influences functional status among elderly without dementia
Authors: Albert Steven M. , Gurland Barry , Maestre Gladys , Jacobs Diane M. , Stern Yaakov , Mayeux Richard 
Published: June 2005

AbstractThe presence of apolipoprotein‐ϵ4 (APOE‐ϵ4) significantly increases the risk of Alzheimer's disease (AD). The association between APOE‐ϵ4 status and functional abilities was explored further in a multicultural sample of community‐dwelling, non‐demented elders. The sample was limited to cognitively‐intact, community‐dwelling elders, who were free of stroke or other neurologic disability. In 218 elders who met research criteria, the presence of APO‐ϵ4 was associated with poorer functional status, apart from the effects of neuropsychological performance, gender, age, and education (OR = 2.5, 95% CI: 1.3, 4.9). In 158 subjects without an APOE‐ϵ4 allele, 50% reported no functional limitation; in the 60 subjects with an ϵ4 allele, only 28% reported no functional limitation (P < .01). The relationship was not explained by the distribution of co‐morbidities. The association between poorer function and the presence of an APOE‐ϵ4 allele was evident in each ethnic group. In path analyses, the presence of an APOE‐ϵ4 allele was associated with decreased functional ability in non‐demented elders not simply through an association with poorer cognitive status, but also independently. These results suggest that the APOE‐ϵ4 genotype is associated with functional deficit in people with normal neuropsychological profiles. © 1995 Wiley‐Liss, Inc.
The development of infant play in a captive group of lowland gorillas (Gorilla gorilla gorilla)
Authors: Hoff Michael P. , Nadler Ronald D. , Maple Terry L. 
Published: June 2005

AbstractThree infant gorillas born at the Yerkes Regional Primate Research Center of Emory University were studied during their first year and one‐half of life for various aspects of behavior, including solitary and social play, using both focal animal and one‐zero sampling. The appearance of play in these infants followed a developmental trend, beginning with mother‐infant play, and followed by solitary play, and then social play among peers. Mothers were initially very vigilant, repeatedly interrupting infant peer play bouts, this relaxing toward the end of the first year. Evidence for a possible sex difference in active social play is presented.
On the anatomical organization of the vagal nuclei
Authors: Karim M. A. , Leong S. K. , Perwaiz S. A. 
Published: June 2005

AbstractThe neurons of origin of the right vagus and its components in both the monkey (Macaca fascicularis) and albino rats were localized by the retrograde transport of horseradish peroxidase (HRP) applied to the stomach wall, the vagal trunk and its recurrent laryngeal branch. An attempt was also made to localize the neurons forming the superior laryngeal nerve and those supplying the thoracic organs by a combination of operative procedures. The results showed that the stomach was innervated by neurons distributed throughout the entire rostrocaudal extent of the dorsal motor nucleus (DMN) on both sides of the brain stem. Neurons scattered throughout the entire extent of the DMN and nucleus ambiguus (NA) supplied the thoracic viscera. There did not appear to be any topographic arrangement in the DMN neurons supplying the abdominal and thoracic viscera as reported by other workers, and there was no clear evidence of crossing of vagal fibers in the monkey brain stem, though such crossing was seen in the rat brain stem. Both the superior and inferior ganglia of the vagus nerve were labeled following application of HRP to the vagal trunk. Neurons in the caudal part of the NA gave rise to fibers in the ipsilateral recurrent laryngeal nerve, at least on the right side. The neurons giving rise to the superior laryngeal nerve could not be delineated in this study. In all the experimental procedures described, the hypoglossal nucleus was labeled only after applying HRP to the hypoglossal nerve.