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Biomedical subjects

S Dollfus

Publications and source records attributed to S Dollfus.

At least 19 recordsLinked to original sources
PubMed2005

Are eye movement abnormalities indicators of genetic vulnerability to schizophrenia?

UNLABELLED: Fifty to eighty-five percent of schizophrenic patients are impaired on ocular pursuit paradigms. However, results regarding the relatives are more discordant. The aim of this study was to investigate whether eye movement disorders could be a vulnerability marker of schizophrenia. METHOD: Twenty-one schizophrenic patients (DSM-IV), 31 first-degree relatives of those patients without schizophrenic spectrum disorders, and two groups of healthy controls matched by age and sex were included. Three oculomotor tasks (smooth pursuit, reflexive saccades and antisaccades) were used. RESULTS: Patients had a lower averaged gain (P= 0.035) during smooth pursuit than controls, made less correct visually guided saccades (P< 0.001) and more antisaccades errors (P= 0.002) than controls. In contrast, none of the comparison between the relatives and their controls was significant. CONCLUSION: Schizophrenic patients were impaired on smooth pursuit and antisaccade paradigms. None of these impairments was, however, observed in their first-degree relatives. Our results suggest that the eye movement parameters tested could not be considered as vulnerability markers for schizophrenia.

Adult↗
PubMed2005

Hyperprolinemia is a risk factor for schizoaffective disorder.

DNA sequence variations within the 22q11 DiGeorge chromosomal region are likely to confer susceptibility to psychotic disorders. In a previous report, we identified several heterozygous alterations, including a complete deletion, of the proline dehydrogenase (PRODH) gene, which were associated with moderate hyperprolinemia in a subset of DSM III schizophrenic patients. Our objective was (i) to determine whether hyperprolinemia is associated with increased susceptibility for any of three psychiatric conditions (schizophrenia, schizoaffective disorder and bipolar disorder) and (ii) to establish a correlation between hyperprolinemia and PRODH genotypes. We have conducted a case-control study including 114 control subjects, 188 patients with schizophrenia, 63 with schizoaffective disorder and 69 with bipolar disorder. We report that, taking into account a confounding effect due to valproate treatment, hyperprolinemia is a risk factor for DSM IIIR schizoaffective disorder (P=0.02, Odds ratio=4.6, 95% confidence interval 1.3-16.3). We did not detect 22q11 interstitial deletions associated with the DiGeorge syndrome among the 320 patients of our sample and we found no association between common PRODH polymorphisms and any of the psychotic disorders. In contrast, we found that five rare PRODH alterations (including a complete PRODH deletion and four missense substitutions) were associated with hyperprolinemia. In several cases, two variations were present simultaneously, either in cis or trans in the same subject. A total of 11 from 30 hyperprolinemic subjects bore at least one genetic variation associated with hyperprolinemia. This study demonstrates that moderate hyperprolinemia is an intermediate phenotype associated with certain forms of psychosis.

Adult↗
PubMed2002

Cognitive patterns in subtypes of schizophrenia.

AIM: Because of the heterogeneity of schizophrenia, this study researched different cognitive patterns in distinct subtypes of schizophrenic patients. METHODS: Thirty-five Diagnostic and Statistical Manual IV (DSM IV) schizophrenic patients and 35 healthy controls were included. Patients were categorized into deficit, disorganized and positive subtypes with the schedule for the deficit syndrome (SDS) and the positive and negative syndrome scale (PANSS). Executive/attentional functions were assessed with the modified card sorting test (MCST), a test of verbal fluency, the trail making test (TMT) and the Stroop color-word test (Stroop test). Episodic memory was explored through the California verbal learning test (CVLT). RESULTS: The positive subtype had some executive/attentional (fluency and Stroop tests) and mnesic performances in the normal range, suggesting the preservation of good cognitive skills. In contrast, the deficit and disorganized subtypes had major mnesic and executive/attentional dysfunctions compared to healthy subjects. The deficit subtype compared to the control group performed predominantly worse on the MCST and fluency, whereas the disorganized subtype had the lowest scores on the TMT and the Stroop test. CONCLUSION: This study showed distinct cognitive patterns in deficit, disorganized and positive patients in comparison with the controls, suggesting a heterogeneous cognitive dysfunction in schizophrenia.

Adolescent↗
PubMed2001

Saccadic and smooth-pursuit eye movements in deficit and non-deficit schizophrenia.

We have analyzed eye movement performances in schizophrenics showing primary negative or deficit symptoms (n=16) and non-deficit schizophrenics (n=55), and compared them with those of controls (n=34) in order to study the relationships between negative symptoms and eye movement abnormalities. Patients were subtyped into deficit and non-deficit subgroups using the Schedule for the Deficit Syndrome. Three oculomotor paradigms were used: smooth pursuit, a reflexive saccade paradigm and an antisaccadic task. The smooth pursuit gain was significantly decreased (and the rate of catch-up saccades increased) in schizophrenics as compared with controls, but no difference was observed between patient groups. In the reflexive saccade paradigm, no difference was found between controls and patients, except for latency in deficit patients. In the antisaccade paradigm, the number of errors and the latency of successful antisaccades were significantly increased in schizophrenics as compared with controls. The latency of successful antisaccades in both directions was significantly increased in deficit patients as compared with non-deficit patients. The latency of rightward successful antisaccades was significantly increased as compared with the latency of leftward antisaccades in deficit patients only. However, when patients were classified into negative and non-negative groups using the PANSS, no difference was found in the antisaccade paradigm. Smooth pursuit impairment does not seem to depend on the primary enduring negative symptoms.In deficit schizophrenics, the abnormalities observed in the antisaccadic task are consistent with prefrontal dysfunction, and may suggest parietal lobe dysfunction as well.

Adult↗
PubMed2001

Schizophrenia and familial idiopathic basal ganglia calcification: a case report.

BACKGROUND: Familial idiopathic basal ganglia calcification (FIBGC) is generally associated with neurological and psychiatric symptoms. An association between FIBGC and schizophrenia has been described but it remains uncertain. We studied the relationship between the presence and extent of basal ganglia calcification and schizophrenia in a multiply affected family. METHOD: Symmetrical basal ganglia calcifications (BGC) were detected on computerized tomography (CT) in a schizophrenic proband and led us to carry out CTs and standardized psychiatric evaluations (SADS--Endicott & Spitzer, 1978) in all available first-degree relatives (mother and six siblings). RESULTS: Five subjects had BGC, including three subjects diagnosed as schizophrenic. Three subjects had no BGC and none of them was diagnosed as schizophrenic. We subdivided the BGC into three groups: massive (pallidum, striatum and dentate nuclei affected); medium (pallidum and striatum); and mild (pallidum only). The two subjects with massive BGC and one of the two with medium BGC had schizophrenia. The subject with mild BGC had no psychotic symptoms. CONCLUSION: Our results are consistent with the hypothesis that BGC favours the occurrence of a schizophrenia-like syndrome and that the risk of occurrence of this syndrome is proportional to the extent of calcification. These findings support the hypothesis that schizophrenia is determined by a disruption of thalamo-cortico-striatal circuits.

Adult↗
PubMed2000

Proton magnetic resonance spectroscopy (1H-MRS) of the thalamus in schizophrenia.

This study applied (1)H-MRS in the thalamus of schizophrenic patients and healthy subjects. There were no differences in the metabolite ratios (NAA/Cr, Cho/Cr or mI/Cr) between the two groups. Relationships were noted between NAA/Cr and age in patients with a trend toward this correlation in controls, suggesting an effect of age on the metabolism of the thalamus.

Adult↗
PubMed2000

Proton magnetic resonance spectroscopy of the medial prefrontal cortex in patients with deficit schizophrenia: preliminary report.

OBJECTIVE: Proton magnetic resonance spectroscopy (1H-MRS) was used to study medial prefrontal metabolic impairments in schizophrenic patients with the deficit syndrome. METHOD: The subjects were 22 schizophrenic patients categorized as deficit (N=5) or nondeficit (N=17) and 21 healthy subjects. (1)H-MRS was performed for the right and the left medial prefrontal cortex. RESULTS: The patients with the deficit syndrome had significantly lower ratios of N-acetylaspartate to creatine plus phosphocreatine than did the healthy subjects or nondeficit patients. CONCLUSIONS: As N-acetylaspartate levels could reflect neuronal density and/or viability, this finding suggests a neuronal loss in the medial prefrontal cortex of deficit patients.

Aspartic Acid↗
PubMed1999

Month of birth in deficit and non-deficit schizophrenic patients.

In order to test the hypothesis that an excess of summer births is a risk factor for deficit syndrome, the month of birth was studied in 53 deficit schizophrenic patients compared to 158 non-deficit patients. No significant difference in terms of month of birth or season of birth was observed between deficit and non-deficit patients, suggesting that summer births might not be a risk factor for deficit schizophrenia.

Adult↗
PubMed1999

Apolipoprotein E-varepsilon4 frequency in deficit schizophrenia.

The apolipoprotein E (ApoE) genotype has been found to affect the expression of several neuropsychiatric disorders. We determined ApoE genotype frequencies and their relationship to primary negative symptoms in 61 non-deficit and 45 deficit schizophrenic patients, and compared them with 98 control subjects. No difference was observed when genotype or allele frequencies were compared between the three groups. Our data do not support a role for ApoE in the phenotypic expression of schizophrenia.

Adult↗
PubMed1998

No association of apolipoprotein epsilon 4 allele with schizophrenia even in cognitively impaired patients.

Given the strong association of the apolipoprotein E (apoE) allele epsilon 4 (epsilon 4) with Alzheimer's disease or cognitive decline in elderly, we tested whether cognitive performance in schizophrenic subjects is associated with an increase in the frequency of the ApoE epsilon 4 allele. Our data indicate that in our sample: (1) there is no association between schizophrenia and the ApoE epsilon 4 allele; and (2) the ApoE epsilon 4 allele is not of major importance with regard to the cognitive decline observed in schizophrenia.

Adult↗
PubMed1998

Plasma 3-methoxy-4-hydroxyphenylglycol and homovanillic acid measurements in deficit and nondeficit forms of schizophrenia.

BACKGROUND: Discrepancies in the biochemical research on negative symptoms in schizophrenia may be ascribed to the lack of differentiation into primary and secondary negative symptoms. We have used Carpenter's criteria to define the deficit syndrome of schizophrenia as the presence of enduring and primary negative symptoms and measured catecholaminergic parameters in deficit as compared with nondeficit schizophrenics. METHODS: We have investigated plasma homovanillic acid (pHVA) and 3-methoxy-4-hydroxyphenylglycol (pMHPG) concentrations in 34 DSM-III-R neuroleptic-treated schizophrenic patients who were classified into deficit (n = 14) and nondeficit (n = 20) forms of schizophrenia. All these patients were in a stable clinical and therapeutic status for the preceding 12 months. RESULTS: The 14 deficit schizophrenic patients had lower plasma levels of pHVA and higher plasma concentrations of pMHPG from 9 AM to 12 AM as compared with the 20 nondeficit schizophrenic patients. The two groups did not differ on any demographic, therapeutic, or clinical variable considered. CONCLUSIONS: Our data are consistent with the postulated distinct pathophysiological basis for the deficit syndrome of schizophrenia and suggest that opposite alterations in the pHVA or pMHPG levels may reflect specific changes in noradrenergic and dopaminergic functions in these deficit patients.

Aged↗
PubMed1998

Symptom structure in schizophrenia: two-, three- or four-factor models?

Beside the syndromic dichotomy (negative-positive), other symptomatic dimensions have been described in schizophrenia. A question of interest is, therefore, to know which symptom structures can be individualized to characterize schizophrenia. Using confirmatory factor analysis in 135 patients, a two-factor model (negative-positive), a three-factor model (negative-positive-disorganization) and a four-factor model (negative-positive-disorganization-relational) were primarily identified with SANS (Scale for the Assessment of Negative Symptoms) and SAPS (Scale for the Assessment of Positive Symptoms). In contrast, no models could be identified with PANSS (Positive and Negative Syndrome Scale). The results confirm the relevance of other syndrome dimensions, beside the negative and positive ones and suggest that SANS-SAPS was more useful than PANSS in identifying an adequate dimensional factor structure of schizophrenic symptoms.

Adult↗
PubMed1997

Association of DNA polymorphism in the first intron of the tyrosine hydroxylase gene with disturbances of the catecholaminergic system in schizophrenia.

We examined whether there are clinical or biological differences in chronic schizophrenic patients sharing a rare variant allele (a perfect ten tetranucleotide repeats allele of the human TH01 microsatellite) in the tyrosine hydroxylase (TH) gene. For that purpose, clinical parameters (PANSS subscores) and plasma measurements (homovanillic acid and 3-methoxy-4-hydroxy-phenylglycol (MHPG)) were analyzed in five schizophrenic patients sharing the rare allele and 19 schizophrenic patients who did not possess this allele. The mean concentration of plasma HVA and plasma MHPG were significantly lower in the group of schizophrenic patients sharing the rare allele. No other group differences were observed between both groups. These results suggest that this TH gene polymorphism may be associated with disturbances of the catecholaminergic pathway.

Adult↗
PubMed1997

Clinical heterogeneity of schizophrenia.

The heterogeneity of schizophrenia has led to a multitude of diagnostic criteria systems. Thus, the best strategy for schizophrenia research might be the use of several diagnostic systems simultaneously. This polydiagnostic approach can be associated with isolating subtypes of symptoms or patients. In this way, the authors present several approaches such as, first, dimensional approaches, second, cluster analyses, and third the selection of a very homogeneous subtype with standardized criteria. One homogeneous subtype can be represented by deficit schizophrenia according to Carpenter as defined by the Schedule of Deficit Syndrome.

Adult↗
PubMed1997

[Syndromic and diagnostic heterogeneity of schizophrenia].

Heterogeneity in schizophrenia is an old concept, already evoked by Kraepelin and Bleuler. During the XXth century, this conception has led to a multiplication of diagnostic systems, which allow to define similar groups of patients from a country to another. However, these systems cannot select homogeneous groups of patients, since they include "polythetic" diagnostic criteria. Moreover, comparison of groups selected by different diagnostic systems shows that they are very heterogeneous too. It is why a polydiagnostic approach could be a relevant strategy: this consists of using many diagnostic systems at the same time in order not to select an arbitrary subgroup of schizophrenic patients over another. Therefore, several ways are possible to isolate the most homogeneous groups of patients from the heterogeneous population obtained with the polydiagnostic approach, depending on the aim of the research. A first possibility is a dimensional approach, in individualizing syndromic dimensions from psychopathological scales using principal component analyses. This approach might be useful to test the efficiency of an antipsychotic on a syndromic dimension. A second possibility is to identify groups of patients characterized by the largest homogeneity inside each group and the largest differences between groups. One way to perform it is the cluster analysis. Authors present a study using such a method: 5 different subgroups are identified in 138 schizophrenic patients. This approach is useful to study a subgroup of patients in comparison with a control group. A third possibility is represented by Carpenter et al. approach (7) with the definition of the deficit syndrome; a very homogeneous group of patients defined by standardized criteria can be individualized and characterized by physiopathologic anomalies.

Antipsychotic Agents↗