bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention‐deficit/hyperactivity disorder
Authors: Willcutt Erik G. , Pennington Bruce F. , Smith Shelley D. , Cardon Lon R. , Gayán Javier , Knopik Valerie S. , Olson Richard K. , DeFries John C. 
Published: August 2002

AbstractComorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc.
No association between DCP1 genotype and late‐onset Alzheimer disease
Authors: Buss Svenja , Müller‐Thomsen Tomas , Hock Cristoph , Alberici Antonella , Binetti Giuliano , Nitsch Roger M. , Gal Andreas , Finckh Ulrich 
Published: August 2002

AbstractIn a study of 261 patients with Alzheimer disease (AD) and 306 cognitively normal control subjects from Germany, Switzerland, and Italy, we found no association between genotype counts or allelic frequencies of DCP1, the gene encoding angiotensin‐converting enzyme. In accordance with several other studies, our data could not confirm previous association findings. Critical review about all studies available on DCP1 genotyping and AD, age‐associated cognitive decline, longevity, and other conditions revealed remarkable inconsistencies. Several studies showed significant deviations of genotype counts from Hardy Weinberg equilibrium (HWE). Deviations from HWE may limit the comparability of study results and require clarification before drawing conclusions with respect to disease risk, health conditions, or longevity in association with DCP1 genotype. © 2002 Wiley‐Liss, Inc.
Investigation of two variants in the DOPA decarboxylase gene in patients with autism
Authors: Lauritsen Marlene B. , Børglum Anders D. , Betancur Catalina , Philippe Anne , Kruse Torben A. , Leboyer Marion , Ewald Henrik 
Published: August 2002

AbstractThough genetic risk factors are important for the development of autism, no specific risk alleles have yet been identified. DOPA decarboxylase (DDC) is involved in both the catecholaminergic and serotonergic pathways and may be considered a functional candidate gene for autism. The present study is the first to test if two new variants of possible functional significance in the DDC gene increase the susceptibility to autism. A total of 90 parent‐offspring trios recruited in Denmark and France were investigated using the transmission disequilibrium test (TDT). We found no evidence of linkage disequilibrium between autism and either of the two polymorphisms. Nor did we find linkage disequilibrium between autism and haplotypes of the two variants using a multiallelic TDT. These findings suggest that the DDC gene is unlikely to play a major role in the development of autism in our data set. © 2002 Wiley‐Liss, Inc.
Genetic association analysis of behavioral inhibition using candidate loci from mouse models
Authors: Smoller Jordan W. , Rosenbaum Jerrold F. , Biederman Joseph , Susswein Lisa S. , Kennedy John , Kagan Jerome , Snidman Nancy , Laird Nan , Tsuang Ming T. , Faraone Stephen V. , Schwarz Alysandra , Slaugenhaupt Susan A. 
Published: August 2002

AbstractGenes influence the development of anxiety disorders, but the specific loci involved are not known. Genetic association studies of anxiety disorders are complicated by the complexity of the phenotypes and the difficulty in identifying appropriate candidate loci. We have begun to examine the genetics of behavioral inhibition to the unfamiliar (BI), a heritable temperamental predisposition that is a developmental and familial risk factor for panic and phobic disorders. Specific loci associated with homologous phenotypes in mouse models provide compelling candidate genes for human BI. We conducted family‐based association analyses of BI using four genes derived from genetic studies of mouse models with features of behavioral inhibition. The sample included families of 72 children classified as inhibited by structured behavioral assessments. We observed modest evidence of association (P = 0.05) between BI and the glutamic acid decarboxylase gene (65 kDA isoform), which encodes an enzyme involved in GABA synthesis. No significant evidence of association was observed for the genes encoding the adenosine A1A receptor, the adenosine A2A receptor, or preproenkephalin. This study illustrates the potential utility of using candidate genes derived from mouse models to dissect the genetic basis of BI, a possible intermediate phenotype for panic and phobic disorders. © 2001 Wiley‐Liss, Inc.
Scanning of estrogen receptor α (ERα) and thyroid hormone receptor α (TRα) genes in patients with psychiatric diseases: Four missense mutations identified in ERα gene
Authors: Feng Jinong , Yan Jin , Michaud Shawneen , Craddock Nick , Jones Ian R. , Cook Edwin H. , Goldman David , Heston Leonard L. , Peltonen Leena , Delisi Lynn E. , Sommer Steve S. 
Published: August 2002

AbstractEstrogen and thyroid hormones exert effects on growth, development, and differentiation of the nervous system. Hormone administration can lead to changes in behavior, suggesting that genetic variants of the estrogen receptor α (ERα) and the thyroid hormone receptor α (TRα) genes may predispose to psychiatric diseases. To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERα and TRα genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention‐deficit hyperactivity disorder (ADHD), and alcoholism. A total of 1.18 megabases of the ERα gene and 1.16 megabases of the TRα gene were scanned with Detection of Virtually All Mutations‐SSCP (DOVAM‐S), a method that detects virtually all mutations. Four missense mutations, seven silent mutations and one deletion were identified in the ERα gene, while only four silent mutations were present in the TRα gene. Two of the missense mutations in ERα are conserved in the six available mammalian and bird species (H6Y, K299R) and a third sequence variant (P146Q) is conserved in mammals, birds, and Xenopus laevis, hinting that these sequence changes will be of functional significance. These changes were found in one patient each with BPI, puerperal psychosis, and alcoholism, respectively. Analysis of the ERα and TRα genes in 240 subjects reveals that missense changes and splice site variants are uncommon (1.7% and 0%, respectively). Further analyses are necessary to determine if the missense mutations identified in this study are associated with predisposition or outcome for either psychiatric or nonpsychiatric diseases. © 2001 Wiley‐Liss, Inc.
No association between a promoter dopamine D4 receptor gene variant and schizophrenia
Authors: Jönsson Erik G. , Ivo Roland , Forslund Kaj , Mattila‐Evenden Marja , Rylander Gunnar , Cichon Sven , Propping Peter , Nöthen Markus M. , Åsberg Marie , Sedvall Göran C. 
Published: August 2002

AbstractThe dopamine D4 receptor has been implicated in the pathogenesis of schizophrenia. An association between a putative functional promoter polymorphism (−521C/T) in the dopamine D4 receptor gene (DRD4) and schizophrenia was recently reported. In the present study, patients with schizophrenia (n = 132) and control subjects (n = 388) were analyzed with respect to the DRD4 − 521C/T polymorphism. No significant case control differences emerged. The present results do not support a major role for DRD4 in the etiology of schizophrenia among Caucasians from Sweden. © 2001 Wiley‐Liss, Inc.
Rank and grooming reciprocity among females in a mixed‐sex group of captive hamadryas baboons
Authors: Leinfelder Iris , de Vries Han , Deleu Rebekka , Nelissen Mark 
Published: August 2002

AbstractIn a mixed‐sex, captive group of hamadryas baboons (Papio hamadryas hamadryas) we investigated whether female grooming relationships are affected by their dominance ranks. Seyfarth’s [1977] grooming for support model and Barrett et al.’s [1999] biological market model both predict that in primate groups where competition for monopolizable resources is high, grooming among females is based, at least partly, on the interchange of grooming for rank‐related benefits, and that rank thus influences the distribution of grooming in females. Contrary to this prediction, our results show that despite the existence of a linear dominance hierarchy, rather strict dominance relationships, and high food‐related aggression rates, grooming among female hamadryas baboons is not affected by rank and is only exchanged for itself. This is understandable since rank differences in our study group only result in differential access to limited, preferred food items that are not actively shared. Although some females are more likely to tolerate one another at the food pile, this tolerance is not determined by their grooming efforts and interchange of grooming for rank‐related benefits does not occur. We conclude that female hamadryas baboons groom others in order to be groomed by them, which is supported by our observation that grooming reciprocity within a dyad increases when more grooming occurs in this dyad. Our results indicate that grooming is indeed a valuable commodity in itself, probably because of its stress‐ and tension‐reducing effect. Based on our findings, the existing groom trade model is extended to include circumstances in which monopolizable resources are available but are not traded for grooming. Am. J. Primatol. 55:25–42, 2001. © 2001 Wiley‐Liss, Inc.
New perspectives on taste and primate evolution: The dichotomy in gustatory coding for perception of beneficent versus noxious substances as supported by correlations among human thresholds
Authors: Hladik Claude‐Marcel , Pasquet P. , Simmen B. 
Published: August 2002

AbstractIn various environments where primates are presently observed, as well as in forests and savannas which have been inhabited by australopithecines and early hominids, there are (or there have been presumably) categories of substances eliciting taste signals associated with stereotyped responses. Such is the case for various soluble sugars of fruits and nectars, attracting consumers, and for several plant compounds in which bitter or strongly astringent properties have a repulsive effect. The occurrence of such classes of tasty substances among natural products appears to be related to the evolutionary trends that shaped primate sensory perception (for detecting either beneficent or potentially noxious substances) in the context of a long history of coevolution between animals and plants. Here, we present original psychophysical data on humans (412 individuals aged 17–59 years) as an analogy with which to test recent evidence from electrophysiology in nonhuman primates (Hellekant et al. [1997] J. Neurophysiol. 77:978–993; Danilova et al. [1998] Ann. N.Y. Acad. Sci. 855:160–164) that taste fibers can be grouped into clusters of “best‐responding fibers” with two more specific clusters, one for sugars and one for quinine and tannins. The collinearity found between human taste responses (recognition thresholds) for fructose and sucrose, as well as for quinine and tannins, is presented and discussed as another evidence of the two‐direction evolutionary trend determining taste sensitivity. Salt perception appears to be totally independent of these trends. Accordingly, the appreciation of a salty taste seems to be a recent culturally learned response, and not a primary taste perception. The very existence of primary tastes is discussed in the context of evolutionary trends, past and present. Am J Phys Anthropol 117:342–348, 2002. © 2002 Wiley‐Liss, Inc.
Bipedality in chimpanzee (Pan troglodytes) and bonobo (Pan paniscus): Testing hypotheses on the evolution of bipedalism
Authors: Videan Elaine N. , McGrew W.C. 
Published: August 2002

AbstractA host of ecological, anatomical, and physiological selective pressures are hypothesized to have played a role in the evolution of hominid bipedalism. A referential model, based on the chimpanzee (Pan troglodytes) and bonobo (Pan paniscus), was used to test through experimental manipulation four hypotheses on the evolution of hominid bipedalism. The introduction of food piles (Carry hypothesis) increased locomotor bipedality in both species. Neither the introduction of branches (Display hypothesis) nor the construction of visual barriers (Vigilance hypothesis) altered bipedality in either species. Introduction of raised foraging structures (Forage hypothesis) increased postural bipedality in chimpanzees. These experimental manipulations provided support for carrying of portable objects and foraging on elevated food‐items as plausible mechanisms that shaped bipedalism in hominids. Am J Phys Anthropol 118:184–190, 2002. © 2002 Wiley‐Liss, Inc.
Dementia and neurodevelopmental predisposition: Cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia
Authors: Geschwind Daniel H. , Robidoux Janik , Alarcón Maricela , Miller Bruce L. , Wilhelmsen Kirk C. , Cummings Jeffrey L. , Nasreddine Ziad S. 
Published: August 2002

AbstractDementia is typically thought of as a disease caused by the process of aging. Few studies have addressed the premorbid neuropsychological alterations in subjects at risk for the disease–an issue of great importance for the understanding and treatment of degenerative dementias. We used knowledge of the mutation carrier status in a family with inherited dementia to address this issue more efficiently than is possible in the general population, or in cases of inherited dementia where the mutational basis is unknown. Standard neuropsychological tests were used to detect evidence of dysfunction in frontal executive systems in 10 presymptomatic subjects with known mutation carrier status in the highly penetrant condition, frontotemporal dementia and parkinsonism linked to chromosome 17. Presymptomatic carriers demonstrated cognitive dysfunction that was not present in 6 nonmutation‐carrying relatives. Strikingly, frontal– executive dysfunction was apparent in some of the youngest mutation carriers many decades prior to the predicted onset of dementia. Thus, this dysfunction may reflect the native cognitive capacities of affected subjects. These results suggest a potentially important neurodevelopmental component to a dementing condition that has been predominantly considered to be a disease of aging; accordingly, this issue warrants study in other families to assess the applicability of these findings.
Novel mental retardation–epilepsy syndrome linked to Xp21.1–p11.4
Authors: Hedera Peter , Alvarado David , Beydoun Ahmad , Fink John K. 
Published: August 2002

AbstractWe evaluated a kindred with X‐linked mental retardation and epilepsy. Seven affected males with mild to moderate mental retardation developed seizures (primarily generalized, tonic–clonic, and atonic) that began on average at 6.8 months of age (range, 4 to 14 months). These patients did not have a history of infantile spasms. There were no dysmorphic features. Other than mental retardation, the neurological examination was unremarkable, with exception of 2 affected subjects who had mild generalized rigidity and ataxia. We identified tight linkage to a group of markers on Xp21.1–p11.4. A maximum two‐point LOD score of +3.83 at θ = 0 was obtained for markers DXS8090, DXS1069, DXS8102, and DXS8085. This locus spans 7.7cM between DXS1049 and DXS8054 and does not overlap the locus for X‐linked West syndrome. The tetraspanin gene, implicated in nonspecific mental retardation, is mapped to this region. We sequenced the tetraspanin coding sequence in subjects with X‐linked mental retardation and epilepsy and did not identify disease‐specific mutations. The syndrome we describe, designated X‐linked mental retardation and epilepsy, is clinically and genetically distinct from X‐linked West syndrome and other X‐linked mental retardation–epilepsy syndromes.
Increase in hand muscle strength of stroke patients after somatosensory stimulation
Authors: Conforto Adriana B. , Kaelin‐Lang Alain , Cohen Leonardo G. 
Published: August 2002

AbstractIt has been proposed that somatosensory input in the form of peripheral nerve stimulation can influence functional measures of motor performance. We studied the effects of median nerve stimulation on pinch muscle strength (a function mediated predominantly by median nerve innervated muscles) in the affected hand of chronic stroke patients. A 2‐hour period of median nerve stimulation elicited an increase in pinch strength that outlasted the stimulation period. The improvement in muscle strength correlated with stimulus intensity and was identified in the absence of motor training. These results suggest that somatosensory stimulation may be a promising adjuvant to rehabilitation of the motor deficits in stroke patients.
Intravenous immunoglobulins neutralize blocking antibodies in Guillain‐Barré syndrome
Authors: Buchwald Brigitte , Ahangari Raheleh , Weishaupt Andreas , Toyka Klaus V. 
Published: August 2002

AbstractIntravenous immunoglobulin (IVIg) treatment ameliorates the course of Guillain‐Barré syndrome (GBS), but its specific mode of action is unknown. We attempted to delineate the effect of IVIg on neuromuscular blocking antibodies in GBS. A total of seven GBS serum samples were examined for blocking antibodies and the effect of IVIg with a macro‐patch‐clamp technique in mouse hemidiaphragms. First, serum was tested before and after treatment with IVIg. Second, we investigated with coincubation experiments whether the IVIg was capable of neutralizing neuromuscular blocking antibodies in GBS serum or affinity‐purified immunoglobulin G (IgG) fractions. Finally, the mechanism of the neutralizing effect was studied by the coincubation of active blocking GBS IgG with Fab and Fc fragments prepared from IVIg. All GBS sera (two adults and two children) and GBS IgG fractions (three adults) taken before treatment with IVIg blocked evoked quantal release by approximately 90%. Blocking activity was markedly reduced in sera obtained after treatment with IVIg. Coincubation of the pretreatment blocking serum with the posttreatment serum, or with the IVIg preparation used for treatment, reduced the blocking activity of the pretreatment GBS serum. When GBS IgG was coincubated with IVIg, the blocking activity of GBS IgG was diminished dose‐dependently. Monovalent and divalent Fab fragments prepared from the IVIg were as effective as whole IVIg, but Fc fragments were ineffective. Therapeutic IVIg is capable of neutralizing neuromuscular blocking antibodies in GBS by a dose‐dependent, antibody‐mediated mechanism. This may, in part, explain its therapeutic efficacy.
High headache prevalence among women with hemochromatosis: The Nord‐Trøndelag health study
Authors: Hagen Knut , Stovner Lars Jacob , Åsberg Arne , Thorstensen Ketil , Bjerve Kristian S. , Hveem Kristian 
Published: August 2002

AbstractIn this large cross‐sectional population‐based study, 51,272 persons responded to a headache questionnaire and were screened for hemochromatosis. Phenotypic hemochromatosis and the C282Y/C282Y genotype were both associated with an 80% increase in headache prevalence evident only among women. The reason for this association is unclear, but one may speculate that iron overload alters the threshold for triggering a headache by disturbing neuronal function.
Periaxin mutations cause a broad spectrum of demyelinating neuropathies
Authors: Takashima Hiroshi , Boerkoel Cornelius F. , De Jonghe Peter , Ceuterick Chantal , Martin Jean‐Jacques , Voit Thomas , Schröder J.‐Michael , Williams Anna , Brophy Peter J. , Timmerman Vincent , Lupski James R. 
Published: August 2002

AbstractPrevious studies have demonstrated that apparent loss‐of‐function mutations in the periaxin gene cause autosomal recessive Dejerine‐Sottas neuropathy or severe demyelinating Charcot‐Marie‐Tooth disease. In this report, we extend the associated phenotypes with the identification of two additional families with novel periaxin gene mutations (C715X and R82fsX96) and provide detailed neuropathology. Each patient had marked sensory involvement; two siblings with a homozygous C715X mutation had much worse sensory impairment than motor impairment. Despite early disease onset, these siblings with the C715X mutation had relatively slow disease progression and adult motor impairment typical of classic demyelinating Charcot‐Marie‐Tooth neuropathy. In contrast, a patient with the homozygous R82fsX96 mutation had a disease course consistent with Dejerine‐Sottas neuropathy. The neuropathology of patients in both families was remarkable for demyelination, onion bulb and occasional tomacula formation with focal myelin thickening, abnormalities of the paranodal myelin loops, and focal absence of paranodal septate‐like junctions between the terminal loops and axon. Our study indicates a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein.
Prospective study of caffeine consumption and risk of Parkinson's disease in men and women
Authors: Ascherio Alberto , Zhang Shumin M. , Hernán Miguel A. , Kawachi Ichiro , Colditz Graham A. , Speizer Frank E. , Willett Walter C. 
Published: August 2002

AbstractResults of case‐control studies and of a prospective investigation in men suggest that consumption of coffee could protect against the risk of Parkinson's disease, but the active constituent is not clear. To address the hypothesis that caffeine is protective against Parkinson's disease, we examined the relationship of coffee and caffeine consumption to the risk of this disease among participants in 2 ongoing cohorts, the Health Professionals' Follow‐Up Study (HPFS) and the Nurses' Health Study (NHS). The study population comprised 47,351 men and 88,565 women who were free of Parkinson's disease, stroke, or cancer at baseline. A comprehensive life style and dietary questionnaire was completed by the participants at baseline and updated every 2–4 years. During the follow‐up (10 years in men, 16 years in women), we documented a total of 288 incident cases of Parkinson's disease. Among men, after adjustment for age and smoking, the relative risk of Parkinson's disease was 0.42 (95% CI: 0.23–0.78; p for trend < 0.001) for men in the top one‐fifth of caffeine intake compared to those in the bottom one‐fifth. An inverse association was also observed with consumption of coffee (p for trend = 0.004), caffeine from noncoffee sources (p for trend < 0.001), and tea (p for trend = 0.02) but not decaffeinated coffee. Among women, the relationship between caffeine or coffee intake and risk of Parkinson's disease was U‐shaped, with the lowest risk observed at moderate intakes (1–3 cups of coffee/day, or the third quintile of caffeine consumption). These results support a possible protective effect of moderate doses of caffeine on risk of Parkinson's disease.