bluuebunny/crossref_metadata_2025 huggingface dataset:
SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family
Authors: Perry R. T. , Go R. C. P. , Harrell L. E. , Acton R. T.
Published: June 2005

Alzheimer's disease (AD) is a progressive, degenerative neurological disorder of the central nervous system. AD is the fourth leading cause of death in elderly persons 65 years or older in Western industrialized societies. The etiology of AD is unknown, but clinical, pathological, epidemiological, and molecular investigations suggest it is etiologically heterogeneous. Mutations in the amyloid protein are rare and segregate with the disease in a few early‐onset familial AD (FAD) families. Similarities between AD and the unconventional viral (UCV) diseases, and between the amyloid and prion proteins, implicate the human prion protein gene (PRNP) as another candidate gene. Single strand conformation polymorphism (SSCP) analysis was used to screen for mutations at this locus in 82 AD patients from 54 families (30 FAD), vs. 39 age‐matched controls. A 24‐bp deletion around codon 68 that codes for one of five Gly‐Pro rich octarepeats was identified in two affected sibs and one offspring of one late‐onset FAD family. Two other affected sibs, three unaffected sibs, and three offspring from this family, in addition to one sporadic AD patient and three age‐matched controls, were heterozygous for another octarepeat deletion located around codon 82. Two of the four affected sibs had features of PD, including one who was autopsy‐verified AD and PD. Although these deletions were found infrequently in other AD patients and controls, they appear to be a rare polymorphism that is segregating in this FAD family. It does not appear that mutations at the PRNP locus are frequently associated with AD in this population. © 1995 Wiley‐Liss, Inc.
Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14
Authors: Mullan Michael , Bennett Craig , Figueredo Cecilia , Hughes David , Mant Rebecca , Owen Michael , Warren Andrew , McInnis Melvin , Marshall Anne , Lantos Peter , Collinge John , Goate Alison , Houlden Henry , Crawford Fiona
Published: June 2005

Early onset familial Alzheimer's disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the β‐amyloid precursor protein (βAPP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with βAPP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val → Ile) or a valine to glycine (Val → Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the βAPP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the βAPP717 Val → Ile and βAPP717 Val → Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or βAPP codon 717 mutated families except mean age of onset. © 1995 Wiley‐Liss, Inc.
Genetic threshold hypothesis of neocortical spike‐and‐wave discharges in the rat: An animal model of petit mal epilepsy
Authors: Vadász C. , Carpi D. , Jando G. , Kandel A. , Urioste R. , Horváth Z. , Pierre E. , Vadi D. , Fleischer A. , Buzsáki G.
Published: June 2005

Neocortical high‐voltage spike‐and‐wave discharges (HVS) in the rat are an animal model of petit mal epilepsy. Genetic analysis of total duration of HVS (s/12 hr) in reciprocal F1 and F2 hybrids of F344 and BN rats indicated that the phenotypic variability of HVS cannot be explained by a simple, monogenic Mendelian model. Biometrical analysis suggested the presence of additive, dominance, and sex‐linked‐epistatic effects, buffering maternal influence, and heterosis. High correlation was observed between average duration (s/episode) and frequency of occurrence of spike‐and‐wave episodes (n/12 hr) in parental and segregating generations, indicating that common genes affect both duration and frequency of the spike‐and‐wave pattern. We propose that both genetic and developmental‐environmental factors control an underlying quantitative variable, which, above a certain threshold level, precipitates HVS discharges. These findings, together with the recent availability of rat DNA markers for total genome mapping, pave the way to the identification of genes that control the susceptibility of the brain to spike‐and‐wave discharges. © 1995 Wiley‐Liss, Inc.
Genetic linkage analysis of schizophrenia using chromosome 11q13–24 markers in Israeli pedigrees
Authors: Mulcrone Janet , Whatley Stephen A. , Marchbanks Roger , Wildenauer Dieter , Altmark David , Daoud Hasib , Gur Eitan , Ebstein Richard P. , Lerer Bernard
Published: June 2005

It is generally agreed that there is a genetic component in the etiology of schizophrenia which may be tested by the application of linkage analysis to multiply‐affected families. One genetic region of interest is the long arm of chromosome 11 because of previously reported associations of genetic variation in this region with schizophrenia, and because of the fact that it contains the locus for the dopamine D2 receptor gene. In this study we have examined the segregation of schizophrenia with microsatellite dinucleotide repeat DNA markers along chromosome 11q in 5 Israeli families multiply‐affected for schizophrenia. The hypothesis of linkage under genetic homogeneity of causation was tested under a number of genetic models. Linkage analysis provided no evidence for significant causal mutations within the region bounded by INT and D11S420 on chromosome 11q. It is still possible, however, that a gene of major effect exists in this region, either with low penetrance or with heterogeneity. © 1995 Wiley‐Liss, Inc.
Role of genetic factors in depression based on studies of Tourette syndrome and ADHD probands and their relatives
Authors: Comings David E.
Published: June 2005

Tourette syndrome (TS) is a common, neuropsychiatric disorder which has many similarities to attention deficit hyperactivity disorder (ADHD). TS probands have a high frequency of a variety of behavioral disorders including depression. The depression may be due to a pleiotrophic effect of the Gts genes, proband ascertainment bias, or a result of coping with the chronic tics. To distinguish between these hypotheses we examined the responses to 17 Diagnostic Interview Schedule questions to evaluate the 9 DSM‐III‐R criteria for major depressive episode in 1,080 adults consisting of TS and ADHD probands, their relatives and controls. Using a Bonferonni corrected p there was a significant progressive increase in 16 of 17 depressive symptoms and for a life time history of a major depressive episode in groups with increased genetic loading for Gts genes. Similar trends were seen in the small number of ADHD probands and their relatives. There was also a significant increase for these variables in non‐proband TS relatives versus non‐TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls. Multiple linear regression analysis indicated that obsessive‐compulsive behaviors, sex, ADHD, drug abuse, and age all showed a more significant effect on depressive symptoms than the number of tics. The presence or absence of TS in the relatives had a much greater effect on risk for depression than the presence or absence of an episode of major depression in the proband. These results are consistent with the hypothesis that Gts and ADHD genes play a major role in depression. © 1995 Wiley‐Liss, Inc.
Relation of schizophrenia and panic disorder: Evidence from a controlled family study
Authors: Heun R. , Maier W.
Published: June 2005

The 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

Cytogenetic 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

In 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

To 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

The 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

The 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

The 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

Objective. 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

To 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

Following 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

Forty‐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

The 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

Although 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

Apoliprotein 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

The 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

Three 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

The 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.
Prenatal ionizing irradiaton and early postnatal growth of Colombian and Bolivian squirrel monkeys (Saimiri sciureus)
Authors: Walker Lary C. , Kaack Bernice , Brizzee Kenneth R. , Walker Margaret L.
Published: June 2005

Fetal squirrel monkeys of Bolivian and Colombian origin were exposed to 100 rad cobalt‐60 radiation in utero and carried to term by the dams. Body weight, head circumference, crown–rump length, and food intake were measured during the first 28 postnatal days. Significant subspecies differences were noted in both mothers and offspring, the Colombian squirrel monkeys being generally larger than the Bolivians. The irradiated offspring weighed significantly less, had significantly smaller crania, and consumed significantly less food than control animals. A statistically nonsignificant decrement was also evident in the crown–rump length of radiation‐treated infants.
Subspecies differences in hormonal and behavioral responses after group formation in squirrel monkeys
Authors: Gonzalez Carol A. , Hennessy Michael B. , Levine Seymour
Published: June 2005

The behavioral and hormonal responses of squirrel monkeys of the Bolivian and Guyanese subspecies were compared after a group formation procedure. Two groups of each subspecies, consisting of five females and three males (later reduced to two) were observed daily during the week of group formation and for nine weeks following removal of a single male from each group. Measures of plasma cortisol were examined in the females after the initial group formation and after the groups were reduced by one male. The levels of plasma testosterone were assessed in all the males during the initial week of group formation. Linear dominance hierarchies were determined both within and across the sexes in both subspecies. The frequency and directionality of low‐level aggressive interactions indicated that females of the Bolivian subspecies were dominant to the males, while the males of the Guyanese subspecies ranked over all the females. Additionally, the Bolivian squirrel monkey females showed an elevation of plasma cortisol on the day of group formation, which declined 48 hr later, then reelevated after the groups were reduced by one male and declined gradually over a nine‐week period. Guyanese females showed little change in cortisol levels during both periods. This suggests fundamental hormonal, as well as behavioral, differences between the two subspecies. The change in plasma testosterone levels in the males during the initial week of group formation was positively correlated with social status. Furthermore, differences in the dynamics within individual groups for each subspecies were reflected by the levels of plasma cortisol of the female members.
“Stone‐grooming” in Macaca fuscata
Authors: Weinberg Susan M. , Candland Douglas K.
Published: June 2005

During study of mother‐infant interactions of Macaca fuscata, a low‐ranking female was observed to use a stone to groom her infant. At times a twig or piece of chow was used in the same fashion. The grooming involved a circular movement of the object around the infant's eye. The use of the stone appears to fit recent definitions of tool‐use. Suggestions are offered regarding the functions of this occasional behavior; however, because of the rarity of its occurrence no conclusion is offered.
The bonnet monkey (Macaca radiata): A model for the study of gonadotropin dynamics during fasting in the human
Authors: Badger T. M. , Beitins I. Z. , Van Wart J. , McArthur J. W.
Published: June 2005

General Hospital and Harvard Medical School, Boston Postmenopausal women excrete significantly greater quantities of radioimmunoassayable luteinizing hormone (LH) and follicle stimulating hormone (FSH) during fasting than during the control or refeeding periods. The concentrations of these gonadotropins in the serum, however, are not affected. In the present studies, ovariectomized Bonnet monkeys (Macaca radiata) and ovariectomized Sprague‐Dawley rats were studied to compare the effects of fasting on gonadotropins dynamics in subhuman primates and rodents. Serum LH and FSH concentrations were not reduced by fasting of monkeys or rats. During a 4‐day fast, rats excreted significantly (P ⩽ 0.01) less LH, FSH, Na+, and K+ than during prefast or refeeding periods. Monkeys, on the other hand, excreted significantly (P ⩽ 0.025) greater quantities of LH and FSH during the last 2 day of a 4‐day fast as compared to prefast and refeeding periods. Like the human, they conserved Na+ and K+ on refeeding. These results indicate that the monkey is a better animal model than the rat with which to study the effects of fasting on gonadotropin excretion in the human.
Contexts and messages in macaque social communication
Authors: Maxim Peter E.
Published: June 2005

Using a previously developed quantitative scale of social behavior, interactions between group members in seven groups of rhesus macaques were studied. Analysis of 636 behavior chains showed that the large number of different chain sequences (445) was due in part to the large number of contexts in which interactions were occurring. A catalog of 33 contexts of interaction was empirically developed. Particular behaviors were found to have different frequencies of occurrence in different contexts. These frequency differences can be accounted for by the verbal message statements derived for each behavior.
Characterization and comparison of testicular LH/hCG receptors of rhesus monkeys (Macaca mulatta) and green monkeys (Cercopithecus aethiops)
Authors: Zaidi P. , Wickings E. J. , Arslan M. , Nieschlag E.
Published: June 2005

Testicular luteinizing hormone (LH/hCG) receptors were characterized in seven green monkeys and compared with those of four rhesus monkeys. Testicular tissue showed high binding affinity for 125I‐hCG, (0.9–2.5 × 109 M−1, and 0.7–1.64 × 109 M−1 respectively, for green and rhesus monkeys) and low binding capacity (0.343–0.682 fmol/mg and 0.198–0.355 fmol/mg testicular homogenate, respectively). There was no difference in binding affinity between the two groups. Testicular LH/hCG receptors in both species bound human LH (hLH) and hCG but did not cross react with ovine LH (oLH). Rat testicular tissue showed similar high binding affinity (6.4 × 109 M−1) and low binding capacity (1.04 fmol/mg tissue homogenate) for 125I‐hCG. Rat LH/hCG receptors bound hLH, hCG, and oLH to a similar degree.
Decrease in sexual initiative and responsiveness in female rhesus macaques (Macaca mulatta) during pregnancy
Authors: Chambers K. C. , Phoenix C. H.
Published: June 2005

Although the sexual behavior of female rhesus macaques (Macaca mulatta) has been reported to decrease during pregnancy, systematic studies have been largely confined to reports of male behavior. Therefore, we designed a study to examine changes in female sexual behavior during pregnancy. Six cycling multiparous female rhesus macaques were paired during the periovulatory period of the menstrual cycle and during the first and second halves of pregnancy with six sexually experienced males of the same species. Each female was paired with the same male in all tests. The means of the behavioral measures scored on days 11–13 of the menstrual cycle, 35–56 of pregnancy, and 147–168 of pregnancy were compared. Females showed a significant decrease in the present contact ratio and the rate of threat‐aways during pregnancy. Males showed lower rates of threatening‐away, contacting, mounting, intromitting, and ejaculating when females were pregnant. The extent to which the decrease in male sexual behavior can be accounted for by an increase in female rejection is uncertain, but it is probably as significant as any loss of attractiveness that might accompany pregnancy.
Failure to demonstrate self‐recognition in gorillas
Authors: Ledbetter David H. , Basen Jeffry A.
Published: June 2005

Two zoo‐reared gorillas were each given nearly 400 h of mirror exposure. Extensive mirror gazing and social behaviors were exhibited, the frequency of which decreased gradually over the study period. Neither animal demonstrated the transition from other‐directed to self‐directed behavior characteristic of both chimpanzees and orangutans, and no evidence of self‐recognition was found using the Gallup marking paradigm. These negative findings, after extensive mirror exposure, suggest that the gorilla may be the only great ape which lacks the conceptual ability necessary for self‐recognition.
The use of nonhuman primates in the study of bilirubin metabolism and bile secretion
Authors: Cornelius Charles E.
Published: June 2005

Close similarities exist in the chemical structure of fetal and adult bile pigments and mechanisms for hepatic bilirubin conjugation and transport in human and nonhuman primates. Newborn monkeys, unlike other animals, develop physiologic hyperbilirubinemia and are ideal animal models in which to investigate this developmental human disorder. Aberrations in bile pigment metabolism and compartmentalization which occur in hemolytic, hepatocellular, and obstructive diseases, closely resemble those reported in counterpart syndromes in man. Similarities also exist in the mechanisms responsible for the secretion of canalicular and ductular/ductal bile and the composition of bile. Nonhuman primates offer distinct advantages for comparative studies concerning bile pigment metabolism and the secretion of bile.
Interspecific spacing between gibbons (Hylobates klossii) and langurs (Presbytis potenziani) on Siberut Island, Indonesia
Authors: Tilson Ronald L. , Tenaza Richard R.
Published: June 2005

Spatial arrangement and social interactions of two sympatric and ecologically similar primate species, Hylobates klossii and Presbytis potenzianai, are described from field observations made between July 1972 and October 1974 on Siberut Island, Indonesia. Gibbon territories and langur home ranges overlap extensively. Because gibbons have the ability to supplant langurs at shared food sources, langurs are at a competitive disadvantage. To avoid or decrease the frequency of hostile interactions with gibbons, langurs locate their core areas on boundaries between adjacent gibbon territories, which permits langurs to retreat across these barriers in response to gibbon movements. Langurs further enhance segregration by leaving their sleeping trees earlier than gibbons, gaining additional feeding time on contested food sources. This form of interspecific spatial organization between gibbons and langurs resembles certain predator‐prey spacing systems, where territorial boundaries between adjacent predators serve as sanctuaries for prey populations.
Patterns of sexual behavior in male macaques
Authors: Shively C. , Clarke S. , King N. , Schapiro S. , Mitchell G.
Published: June 2005

One large social group of each of three species of macaques (Macaca mulatta, M. fascicularis, M. radiata), housed in half‐acre field cages at the California Primate Research Center, were observed for a total of 150 h. Data on sexual behavior and dominance interactions were recorded by pairs of experienced observers using a focal animal technique. Single or multiple mount‐to‐ejaculation sequences, number of thrusts per mount, number of mounts per sequence, duration of mounts per sequence, duration of sequences, social rank and frequency of sexual activity were recorded for each adult male. M. mulatta used a multiple mount‐to‐ejaculation (MME) pattern in 91% of their copulations. M. radiata used a single mount‐to‐ejaculation (SME) pattern in 91% of their copulations. M. fascicularis used both patterns—53% MME and 47% SME. A positive correlation was found between rank and sexual activity in fascicularis and mulatta males. A negative correlation between rank and sexual activity was found in radiata males and also a positive correlation between rank and age indicating that the youngest and most subordinate radiata males were the most sexually active males. In reviewing the literature, a relationship between degree of intermale competition, intermale tolerance and type of mounting pattern was revealed. Macaque species that primarily use an SME pattern also show sa high degree of intermale tolerance and little interrnale competition. Macaque species that primarily use an MME pattern typically show a high degree of intermale competition and a low degree of intermale tolerance. Possible events leading to such relationships are discussed.
Conservation note: Socioecology and conservation of macaques and langurs in Varanasi, India
Authors: Pirta R. S.
Published: June 2005

A survey of rhesus monkeys (Macaca mulatta) and hanuman langurs (Presbytis entellus) was conducted in urban and forest areas of Varanasi, India. Data were collected on group size and composition. Nine groups of rhesus monkeys inhabited various urban niches, but langurs were completely absent from urban areas. Approximately 159 rhesus monkeys and 720 langurs lived in the forested area. Both the urban and the forested habitats of this area are being reduced in size, and it is suggested that these populations be moved to nearby forest preserves.
Nasal and cutaneous anatrichosomiasis in the free‐ranging rhesus monkeys (Macaca mulatta) of Cayo Santiago
Authors: Kessler Matt J.
Published: June 2005

One hundred and twenty‐nine free‐ranging rhesus monkeys on the island of Cayo Santiago were surveyed for the nematode Anatrichosoma cutaneum. The purpose of the study was to determine the prevalence of the nasal and cutaneous forms of this parasite in untreated rhesus monkeys maintained in a seminatural subtropical environment. The average prevalence of the nasal form in the sampled Cayo Santiago macaques was 23.2%. Adults were more commoly effected than yearling monkeys with 31.2% and 12.8% parasitized, respectively. Newborn infants were negative. No cases of the cutaneous form were identified. This study determined that nasal Anatrichosomiasis is common in the Cayo Santiago macaques. Further studies are necessary to establish the roles of intermediate host(s) and rhesus monkey behavior in the life cycle of this parasite in order to determine how Anatrichosomiasis has persisted for over 40 years in this colony.
Assessment of glucoregulation in rhesus monkeys sedated with ketamine
Authors: Kemnitz Joseph W. , Kraemer Gary W.
Published: June 2005

Glucose, insulin, and cortisol were measured in the blood of rhesus monkeys under several conditions. Glucose and insulin concentrations were higher and cortisol lower shortly after the morning meal than after an overnight fast. Ketamine had no detectable effect on basal (fasting) glucose or insulin values in normal monkeys, even when sedation was maintained for more than 2 h. Ketamine did not appear to affect the response to a glucose load or to insulininduced hypoglycemia. It is concluded that ketamine is a useful agent for pharmacological restraint of rhesus monkeys during studies of glucoregulation.
Biochemical detection of fecal hematin as a test for meat eating in chimpanzees (Pan troglodytes)
Authors: Spencer Frank , Boaz Noel T. , Allen Mel , McGrew W. C.
Published: June 2005

Meat‐eating by wild chimpanzees has been reported by a number of workers during the last two decades. Direct observation probably underestimates the incidence, even though the behavior occurs relatively infrequently. In 1978, Moreno‐Black suggested that fecal analysis over a long period of time is probably the most effective means to determine the incidence of this behavior in wild chimpanzees and other nonhuman primate groups. A method currently employed by a number of fieldworkers involves the recovery of the remains of a carnivorous meal in the animal's feces. This method, however, may also under represent the incidence because of (1) complete digestion of mammalian parts, (2) the unidentifiability of partially digested remains, and (3) the reingestion of feces. This paper reports the results of a laboratory study using a fecal test not subject to these limitations. The test is based on the biochemical detection of hematin, a derivative of hemaglobin which is found in all mamalian tissues. The results of this study reveal that hematin is a reliable indicator of meat consumption. The test is available in a commercially prepared kit, namely HEMOCULT™, which was developed to detect clinically significant amounts of blood in the feces of human patients with presumptive gastrointestinal lesions. This kit has been evaluated with a view to its possible application in the field.