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PubMed1992

Rare events and the CNV--the oddball CNV.

Event-related brain potentials (ERPs), such as Nd and P300, change as a function of the proportion of time if a rare, significant, stimulus occurs. This 'oddball' paradigm has had a significant influence on the interpretation of ERPs in terms of the psychological and information-processing functions they reflect. Interpretations of transient components have differed considerably from that of the sustained potential known as the Contingent negative Variation (CNV), the latter appearing to reflect proactive rather than reactive brain processes. However, experiments in monkeys indicated that the CNV was also sensitive to the oddball effect. The purpose of this experiment was to replicate that finding in humans. The CNVs and P300s of five male and five female college students were studied under three conditions involving different proportions of two types of warning stimuli in a cued reaction time task (paired tone and light). The proportions of one of the warning stimuli, with respect to the total number of trials, were 0.10, 0.30 and 0.50. P300s were larger when elicited by rare warning tones only in the 0.10 condition with maximum P300 amplitude at the parietal site. CNVs at frontal and central areas were larger when the warning cue was the rare event, but there was no effect at the parietal site. These findings may require a rethinking of specific information processing interpretations of other endogenous ERPs, although the results also indicate that the 'oddball' effect on the P300 and CNV was distinctive in terms of scalp distributions and sensitivity to the manipulation.

Adult↗
PubMed1978

The property of contingent negative variation (CNV) in psychiatric patients: schizophrenia and neurosis.

The CNV parameters (amplitude and morphology) and the relationship between CNV parameters and performances (motor response time) were studied on schizophrenics (15 subjects), neurotics (15 subjects) and normal controls (30 subjects divided into 2 groups) in order to clarify the property of CNV in psychiatric patients. Also, the relationship between CNV and personality traits was investigated in neurotics. Since it has been known that age, sex and psychoactive drugs influence the CNV genesis in normal subjects, the control group method was used for these factors in this study. The results obtained were as follows: 1) Mean amplitudes of CNV's for schizophrenics and neurotics in each session of control, nonresponse and recovery tended to be lower than those for normal controls. Significant differences were found between schizophrenics and normal controls. 2) Correlations between CNV amplitude and response time in schizophrenics tended to be positive, while normal controls showed significantly high negative correlations. These findings were discussed from the viewpoint of the arousal theory of CNV genesis. 3) For the neurotic patients, the personality variables appeared to influence CNV amplitude. 4) Type B-CNV was most frequently seen in all sessions for normal controls. Schizophrenics and neurotics tended to show the increment of type P-CNV in nonresponse sessions without a motor response. 5) "Field Dependency" type-CNV was not found in psychiatric patients. This result did not correspond with the data reported by other investigators. 6) Type III- and type IV-prolonged CNV's appeared almost especially in schizophrenics although type II-CNV was observed in all groups. The mechanism of genesis of the prolonged CNV's was discussed.

Adult↗
PubMed1975

Effect of motor-response-deprivation on contingent negative variation (CNV). I: Normal adult data.

CNV's were obtained in S1-S2-MR paradigm from 22 normal subjects between the ages of 19 and 67 years (the mean age, 33.5+/-12.5). And then the effect of the presence or absence of a motor response on the CNV was studied. Results were as follows; (1) In the control session (S1-S2-MR), the mean CNV amplitude was 14+/-5 muV, and the mean response time was 291+/-76 msec. There was no significant difference with age, but the mean CNV amplitude for female was significantly higher than that for male. (2) Under the nonresponse condition (S1-S2) where the subject was instructed to attend to S1-S2 without a motor response, CNV amplitude significantly reduced for all subjects (7+/-5 muV). The mean voltage of the attentive-to-stimuli group was significantly higher than that of the inattentive group, and sex difference was not significant for the attentive group. However, CNV of the inattentive male disappeared completely, while the CNV of the inattentive female was significantly higher (8+/-5 muV). (3) Under the response condition (S1-S2-MR), CNV recovered almost to the magnitude level of the control condition (14+/-3 muV), in spite of the fact that the mean response time was significantly shortened between the control and response sessions. (4) We speculate that CNV changes may be dependent upon the dynamic balance of the excitatory-inhibitory activity.

Adult↗
PubMed2025

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.

BACKGROUND: This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities in prenatal diagnosis, comparing its performance with traditional karyotype analysis. METHODS: A retrospective analysis was conducted on 1001 prenatal samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq and karyotype analysis. The detection rates of chromosomal abnormalities were compared between the two methods across various prenatal diagnostic indications. Clinical follow-up was performed to assess pregnancy outcomes. RESULTS: CNV-Seq detected chromosomal abnormalities in 89 of 1,001 cases (8.9%), compared to 50 cases (5.0%) identified by traditional karyotyping. CNV-Seq not only detected all abnormalities identified by karyotyping, including common aneuploidies such as trisomy 21 and sex chromosome abnormalities, but also uncovered 53 additional pathogenic submicroscopic CNVs associated with 33 known syndromes. The detection rates of CNV-Seq were significantly higher in high-risk groups, such as those identified by non-invasive prenatal testing (HR-NIPT) and maternal serum screening (HR-MSS), demonstrating superior sensitivity and accuracy in prenatal diagnostics. CONCLUSION: CNV-Seq demonstrated superior sensitivity in detecting chromosomal abnormalities, particularly submicroscopic alterations, compared to traditional karyotyping. The study highlights the potential of CNV-Seq as a valuable tool in prenatal diagnostics, offering improved detection of genetic abnormalities and guiding clinical decision-making. However, a combined approach using both CNV-Seq and karyotype analysis is recommended for comprehensive prenatal genetic screening.

Humans↗
PubMed1992

Changes in bit-mapped contingent negative variation (CNV) activity due to initial normal involutional processes of the human brain.

Bit-color mapped multicomponent CNV complexes and RTs to S2 evoked with a simple warned CNV/RT paradigm were recorded and measured in 20 selected right-handed very healthy volunteers (10 young adults and 10 presenile subjects, mean age 28.3 and 59.6, respectively). EEG and CNV components (post S1, N1, P2, P3; early CNV; N1200; late CNV; CNV resolution) were recorded from Fz, C3, Cz, C4, P3, Pz, and P4 referenced to linked mastoid electrodes. EOG, RT and stimuli were also recorded. The presenile group differed significantly from the younger group in the auditory post-S1 N1 and early (O-wave) and late (P-wave) CNV complex components. A progressive amplitude reduction limited to frontal leads between O-wave and P-wave, the lowest point being reached in the P-wave, was characteristic in the presenile group. Moreover, presenile subjects showed relatively flat CNV waveshapes of low amplitude and, on the whole, performed a little less well than young ones. This finding suggests that the statistically significant changes in auditory post-S1 N1 and CNV activity recorded in our presenile subjects, without any appreciable deficits in behavioral or mental performance, could be alerting signs of early brain involutional processes related to minimal and subclinical decline in orienting, attentiveness and response preparation capabilities. If such is the case, and it could be confirmed in a larger sample of very healthy subjects, these age-related changes in the presenium might prove to be of considerable practical importance for clinical research.

Adult↗
PubMed2025

CNV-Finder: Streamlining Copy Number Variation Discovery.

Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding the association between CNVs and disease susceptibility is significant in disease genetics research and often requires analysis of large sample sizes. One of the most cost-effective and scalable methods for detecting CNVs is based on normalized signal intensity values, such as Log R Ratio (LRR) and B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present CNV-Finder, a novel pipeline integrating deep learning techniques on array data, specifically a Long Short-Term Memory (LSTM) network, to expedite the large-scale identification of CNVs within predefined genomic regions. This facilitates efficient prioritization of samples for time-consuming or costly subsequent analyses such as Multiplex Ligation-dependent Probe Amplification (MLPA), short-read, and long-read whole genome sequencing. We incorporate four genes to establish our methods-Parkin (PRKN), Leucine Rich Repeat And Ig Domain Containing 2 (LINGO2), Microtubule Associated Protein Tau (MAPT), and alpha-Synuclein (SNCA)-which may be relevant to neurological diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Progressive Supranuclear Palsy (PSP), or related disorders such as essential tremor (ET). By training our models on expert-annotated samples and validating them across diverse cohorts, including those from the Global Parkinson's Genetics Program (GP2) and additional dementia-specific databases, we demonstrate the efficacy of CNV-Finder in accurately detecting deletions and duplications. Our pipeline outputs app-compatible files for visualization within CNV-Finder's interactive web application. This interface enables researchers to review predictions and filter displayed samples by model prediction values, LRR range, and variant count in order to explore or confirm results. Our pipeline integrates this human feedback to enhance model performance and reduce false positive rates. Through a series of comprehensive analyses and validations using visual inspection, MLPA, short-read, and long-read sequencing data, we demonstrate the robustness and adaptability of CNV-Finder in identifying CNVs with regions of varied size, probe density, and noise. Our findings highlight the significance of contextual understanding and human expertise in enhancing the precision of CNV identification, particularly in complex genomic regions like 17q21.31. The CNV-Finder pipeline is a scalable, publicly available resource for the scientific community, available on GitHub (https://github.com/GP2code/CNV-Finder; DOI 10.5281/zenodo.14182563). CNV-Finder not only expedites accurate candidate identification but also significantly reduces the manual workload for researchers, enabling future targeted validation and downstream analyses in regions or phenotypes of interest.

Copy Number Variation (CNV)↗
PubMed1978

The effect of motor-response-deprivation on contingent negative variation (CNV): the morphology.

Eighty-four healthy subjects (47 males and 37 females) ranging in age between 9 and 76 years were employed in a study of the relations of the CNV morphology with the CNV amplitude, the reaction time and the MPI score. The results were as follows: 1. We classified a new type of Plateau (P) in the negative-going limb (NGL) types. 2. There was no sex difference in the NGL types, but the positive-going limb (PGL) types were influenced by age, and the type II tended to increase between the ages of 40--59 years old. 3. As a whole, the type B in the NGL and the type I in the PGL were most prominent regardless of age, session or paradigm. The type FD was very rare and appeared only in the session N. The types III and IV failed to be found in any healthy subjects. 4. Using the matched control study, the relations of the morphology with the CNV amplitude, the reaction time and the MPI score were analyzed. The conventional CNV amplitude in the sessions C and R increased in the sequences of the types B-A-P and the types I-II, and the CNV amplitudes in the session N increased in the sequences of the types A-B-P and II-I. The reaction time in the sessions C and R tended to prolong in the sequences of the types P-B-A and II-I. With the MPI, as the N-score increased with a decrease of the E-score, the NGL types changed from the type P to A through B in the conventional CNV and from the type A to B or P in the session N, while the PGL types changed from the type I to II in the conventional CNV and from the type II to I in the session N. 5. We suggest that there is a twofold arousal process, specific (task-relevant) and general, behind these types and that the dynamic balance of this process may influence psychological manifestations.

Adolescent↗
PubMed1975

The frontal CNV: its dissimilarity to CNVs recorded from other sites.

Two new techniques were used to study the distribution of the CNV recorded from the scalp of humans. One technique was for the suppression of eye movements and the elimination of them fron the average data. The other technique was for the recognition of differences in the form of CNVs recorded from different sites. The latter technique utilized an average vertex CNV as a template pattern against which CNVs from the vertex, left and right frontal, central and parietal sites were matched. The results showed that the frontal CNV was different in form from the vertex, central and parietal Cnvs and that the vertex, central and parietal CnvS were similar in form. An analysis of the amplitudes of CNVs showed that the frontal CNVs were significantly smaller than the CNVs from all other sites, that the vertex CNV was significantly larger than the parietal or central CNVs and that the central CNV was significantly larger than the parietal CNV. There were no differences in amplitude between hemispheres within Condition A responding with the right hand) or Condition B (responding with the left hand) or between Conditions A and B. The results are discussed with respect to their possible theoretical implications.

Adult↗
PubMedDate not supplied

[Comparative study of the CNV and the quantitative EEG during a simple motor task (author's transl)].

The purpose of this study was to evaluate CNV amplitude variability and its degree of covariance with the spontaneous EEG (quantified by FFT algorithm) and the reaction time. 14 healthy male subjects made from atypical for one hour, and they had to keep their eyes closed. Recordings were during this period. CNV experimental paradigm was performed (S1--S2 = 1500 msec). The major findings of this study were that: 1) the CNV amplitude progressively decreased during the first part of the test (habituation) and then tended to stabilize. While not correlated with the vigilance index of spontaneous EEG (alpha/theta + delta index) the CNV amplitude was significantly related to the alpha reactivity index (% alpha of spontaneous EEG--% alpha of the S1--S2 EEG), 2) the CNV slope (calculated by drawing two points situated at 600 msec and 1400 msec after S1) showed significant relationship to both these EEG indices and the reaction time. These data are discussed in terms of Cooper's distinction between "scopeutic" and "categoric" processes (1978) and in terms of the Tecce model of the CNV (1972).

Adult↗
PubMed1978

[Studies of the expectancy wave (CNV) in patients with interruption of the thalamo-prefrontal interconnnection pathways caused by psychosurgical prefrontal lobotomy operations].

Frontal and vertex CNVs were studied in 8 selected nonschizophrenic patients subjected to unilateral or bilateral extensive prefrontal lobotomy. The dorsomedial thalamo-frontal pathways had been severed and their regeneration must be considered impossible. Standard CNV task (S1-S2-R) was followed in order to elicit CNVs from the frontal areas anterior to the line of sections and at Cz. In 7 out of 8 patients it was quite easy to evoke CNV with almost normal features and equal latencies in each case from all the cortical areas explored. These results show that CNV formation is not grossly altered in the prefrontal areas which have been irreversibly deprived of normal bi-directional mediothalamic-frontocortical connnections. This suggests that the role of the dorsomedial thalamo-frontal pathways are not essential in the genesis of the frontal CNV in humans. These findings would suggest that the CNV is a diffuse electrical event essentially related to a unitary cerebral process mediated fundamentally by nonspecific ascending meso-diencephalic reticular systems. The differences in morphology and polarity of the CNVs detectable in various brain structures are presumably related to their intrinsic anatomo-functional characteristics and to the method commonly utilized in recording the CNV.

Adult↗
PubMed1979

A CNV rebound effect.

Fifty normal volunteers were tested in two conditions: (1) a constant-foreperiod reaction time situation consisting of a flash-tone-key press sequence (control trials); (2) a '50%-letters' condition, in which two types of trials occurred randomly--no letters trials, which were identical to control trials, and letters trials, which were similar to control trials but also involved the presentation of four auditory letters within the flash-tone interval as part of a short-term memory task. Compared to control trials, CNV amplitude showed a pattern of reduction in letters trials accompanied by slower reaction times to tone (CNV distraction effect). Compared to control trials, CNV amplitude showed an unexpected supranormal increase in no-letters trials. The CNV rebound effect observed in no-letters trials was interpreted as reflecting a switching of attention from the divided attention set intrinsic to letters trials (listening for letters and preparing for response to tone) to an undivided attention set in no-letters trials (simply preparing for response to tone). The CNV rebound effect, which is diminished in aging individuals and absent in psychosurgery patients, appears to represent a non-invasive technique of possible value in assessing pathophysiology of human brain functioning.

Adult↗
PubMed1976

The effect of motor-response-deprivation on contingent negative variation (CNV). III: relation with Maudsley Personality Inventory (MPI).

The contingent negative variation (CNV) was correlated with Maudsley Personality Inventory (MPI) in 43 healthy adults as follows: (1) The conventional CNV with motor-response showed a negative correlation with the scores of extroversion in the MPI (E-scores). The recovery of the conventional CNV after verbal extinction showed both a negative correlation with the E-scores and a politive correlation with the scores of neuroticism (N-scores). (2) The motor-response-deprived CNV in the stimuli and nonresponse sessions (Sa and Na) showed no correlation with the MPI, because they fluctuated according to the subject's attentiveness. On the other hand, the CNV in the discrimination session (Da) with constant attentiveness to stimuli showed a positive correlation with the N-scores. (3) The response times in the control and response sessions showed a positive correlation with the N-scores in males and a negative correlation in females. The correlation with the E-scores was nearly opposite.

Adult↗
PubMed1978

Motivational slow negative potential shift (CNV) related to thalamotomy.

The alteration of cortical electrical activity induced by imperative stimulation following warning stimulation, contigent negative variation (CNV), and psychological changes following thalamotomy for relief of intractable pain (CM) and tremor (VL) are studied, since CNV has a close relationship with the degree of psychological activity. Ventrolateral thalamotomy does not have any effect on the amplitude of cortical CNV, but the ventromedioposterior part of the centre median has a generating action of CNV in itself and it has facilitatory effects upon cortical CNV. According to these results, the effective mechanism of centre median thalamotomy for relief of intractable pain is caused by suppression of attention and expectancy for exogenous stimuli following lesions of the centre median.

Contingent Negative Variation↗
PubMed1979

Observations on the M-wave and the CNV in the squirrel monkey.

A typical CNV paradigm, with food as reward, evokes in the squirrel monkey's post-arcuate and post-central cortices both M-waves in response to the cues and what appears to be a CNV in the interstimulus interval. Both wave forms appear to be generated locally in cortex and to be more closely related temporally to the cues than to the animal's behavioral response. The CNV, like the M-wave, appears to reflect the animal's level of interest in obtaining the reward. It is smaller when the animal misses the cues than when he responds correctly. It decreases as food pellets are consumed. It varies with the level of interest of the animal in a particular type of food pellet, as judged from the animal's behavior. At some recording sites in some animals it appears to reflect both interest in the reward and interest in manipulating the environment to obtain the reward. It can be maintained for at least 2 sec, but differs from the human CNV in that, with the paradigm used, it is not well resolved by the imperative cue. Averaging evoked activity with the animal's motor response as reference point reveals another negative wave form which just precedes the motor response.

Acoustic Stimulation↗
PubMed1992

Relationship between CNV asymmetries and individual differences in cognitive performance, personality and gender.

This study used verbal and spatial variants of a cognitive 'match/mismatch' paradigm to explore relationships between functional brain asymmetries and individual differences in cognitive performance, personality and gender. Contingent negative variation (CNV) elicited in the 'match/mismatch' paradigm was recorded from central (Cz, C3 and C4) derivations in two male and one female samples. Results indicated gender differences in both the degree and direction of CNV asymmetries. Males showed a left hemisphere asymmetry in the verbal task and a right hemisphere asymmetry in the spatial task, with significant laterality (C3-C4) differences between tasks across the foreperiod. Females showed a left hemisphere asymmetry in both tasks with laterality differences between tasks confined to the early part of the foreperiod. CNV amplitude in the verbal task correlated with verbal memory performance and verbal I.Q. CNV amplitude in the spatial task correlated with visuospatial memory performance. Social extraversion was associated with greater left-hemisphere asymmetry in both tasks, while behavioural extraversion was associated with left-hemisphere asymmetry in the verbal task only, and with smaller verbal than spatial CNVs.

Adult↗
PubMedDate not supplied

[Emotional and attentive interferences and slow cerebral potentials (CNV-P 300) (author's transl)].

A study was conducted to establish possible correlations between electrophysiological indices and performance under neutral situations and those involving completing a double task of increasing complexity, by studying CNV and P 300 in young healthy men. The results demonstrated that: 1. After habituation, the CNV amplitudes were not related to performance. A significant correlation was noted only during the most complex tasks. 2. The CNV appears to depend mainly on endogenous factors, that is to say the aptitude and readiness of an individual to treat the information, rather than on the performance resulting from this treatment. 3. The amplitude of the P 300 is related to performance, as a function of detection rate and the complexity of the tasks. The functional duality of the CNV and the differences between it and the P 300 have been emphasized. The indices obtained from slow potentials appear to be of value for an evaluation of behaviour. Rather than analyzing the characteristics of the potentials in a supposedly "neutral" situation it would appear preferable to establish, from the indices, profiles of individual reactivity and adaptation to different experimental situations.

Action Potentials↗
PubMed1978

EEG evoked response, P300 and CNV during processing of sentence information: clinical application.

Evoked response, P300 and CNV were investigated in the condition in which the subject was required to make a differential response to the acoustically and visually presented sentence with or without meaning, and he was able to determine whether the sentence had a meaning or not by understanding the key information. In healthy persons, P300 amplitude to the beginning of information and to the key information were larger than those to the others. P300 latency to the key character was longer. CNV appeared at the beginning of information and continued. The difference between CNVs produced by meaningful and meaningless sentences was observed after the key information. In aphasia, the difference between CNV's was not observed. In auditory agnosia, the difference between CNVs was not observed to acoustic sentences, but appeared to visual sentences. These results suggest that evoked response, P300 and CNV can be useful for assessing recognition of sentences.

Agnosia↗