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Biomedical subjects

A Destée

Publications and source records attributed to A Destée.

At least 109 records · Page 6Linked to original sources
PubMed1998

Creutzfeldt-Jakob disease: neurophysiologic visual impairments.

OBJECTIVE: The predictive value of electrophysiologic visual testing in Creutzfeldt-Jakob disease (CJD) was investigated, and the retinal pathologic findings in three cases are reported. BACKGROUND: The fatal prognosis of CJD, its transmissibility, and the lack of treatment make early diagnosis essential in averting human-to-human transmission. Electroretinogram and visual evoked potentials have been studied in few cases of CJD. METHODS: A visual electrophysiologic examination was performed in 41 consecutive patients referred with suspected CJD. The disease had been diagnosed in 24 patients (CJD group; 15 were confirmed neuropathologically and 9 by clinicolaboratory methods in accordance with diagnostic criteria). The remaining 17 patients were diagnosed with other neurologic disorders, and served as a control group. RESULTS: Flash electroretinogram revealed a significant decrease in the amplitude of the B1 wave (<60 microV) and the B/A ratio (<2) in the CJD group compared with those in the control group. Flash visual evoked potentials revealed no significant difference in latency, but amplitude was increased (>10 microV) in the CJD group, especially in patients with myoclonus. CONCLUSIONS: The visual electrophysiologic abnormalities provide an interesting noninvasive diagnostic tool in idiopathic CJD. The B1-wave decrease is closely correlated with the outer plexiform layer abnormalities observed on neuropathologic examination.

Adult↗
PubMed1998

["Primary" orthostatic tremor. 10 clinical electrophysiologic observations].

Orthostatic tremor is an unusual kind of potentially disabiling tremor appearing immediately when standing. Clinical examination is normal in primary form except for wide base standing and unsteadiness which disappear when walking. Arm tremor resembling essential tremor is found present in one third of cases. Electrophysiological exploration is necessary for diagnosis and shows a regular rapid tremor (frequency around 16 Hz). We present 10 new cases, 3 men and 7 women, 37 to 74 years old. Unsteadiness when standing was the predominant complaint in 9 cases, the other first described pains in the lower limbs. All had visible or palpable tremor predominant in thighs. Four patients had postural arm tremor, one had neurogen syndrome in the lower limbs corresponding to toxic polyneuropathy which developed after tremor. Electromyographic study found high frequency (13-17.3 Hz) rhythmic discharge in weight-bearing muscles. Orthostatic tremor cannot be considered as a clinical variant of postural essential tremor. Its pathophysiology is unknown but the efficacy of clonazepam, primidone or barbiturates suggests the impairment of the gabaergic system.

Adult↗
PubMed1997

Abnormal cortical activation during planning of voluntary movement in patients with epilepsy with focal motor seizures: event-related desynchronization study of electroencephalographic mu rhythm.

PURPOSE: The spatiotemporal distribution of EEG mu rhythm desynchronization was analyzed in patients with partial epilepsy to determine whether frequent focal motor seizures could induce a change of cortical activation during the planning of a voluntary movement. METHODS: The event-related desynchronization (ERD) of the mu rhythm was quantified during a self-paced voluntary movement of the thumb. The results were compared between two groups of patients with epilepsy: in one group (n = 12), the patients had frontal lobe epilepsy with frequent focal motor seizures (FMS); in the second group (n = 12), they had temporal lobe epilepsy (TLE) with complex partial seizures but no ictal movement disorder. The results were also compared with those of control subjects of same age (n = 10). RESULTS: In the control group, desynchronization of mu rhythm began over the contralateral central region 2,000 ms before the movement onset. In the FMS group, the desynchronization of mu rhythm was delayed, appearing only 500 ms before the movement onset, and the amplitude of ERD was increased over the frontocentral region. In the TLE group, the spatiotemporal pattern of ERD was the same as in normal subjects, but the amplitude of ERD was increased. CONCLUSIONS: These results indicate that there is a change of reactivity of mu rhythm in patients with partial epilepsy. The change in spatiotemporal pattern of ERD in patients with frequent focal motor seizures suggests that there is an abnormal cortical activation during the planning of a voluntary movement.

Adult↗
PubMed1997

PET studies in epilepsy.

Positron emission tomography (PET) plays a major role in the pre-surgical evaluation of patients with refractory partial epilepsy. In this review we discuss the limitations of PET data, the possibilities of fluorodeoxyglucose PET studies, neuroreceptor PET studies and alternatives, such as SPECT and MRI.

Brain↗
PubMed1996

Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene.

Due to their limited life time in culture and their relative resistance to DNA transfection, primary fibroblasts derived from UV-hypersensitive patients could not be used for cloning DNA repair gene and studying stable complementation with wild-type DNA repair genes. Primary cells were only used for complementation analysis after transient expression through cell fusion. DNA microinjection and transfection. We report the retroviral-mediated highly efficient transfer and stable expression of XPD/ERCC2 gene in fibroblast strains from eight different patients using the LXPDSN retroviral vector. Cells derived from skin biopsies of xeroderma pigmentosum and trichothiodystrophy patients were incubated with vector-containing suspension and selected with the neomycin-analog G418. LXPDSN vector specifically complemented cells belonging to the XP-D group. Long-term reversion of repair-deficient phenotype, monitored by UV survival and UDS analysis, has been achieved in these diploid fibroblasts. We demonstrate this methodology is a powerful tool to study phenotypic reversion of nucleotide excision repair-deficient cells such as cellular DNA repair properties and we suggest that it may be used to study other cellular parameters (cell cycle regulation, p53 stability or immunosurveillance-controlling factors) involved in UV-induced skin cancers and which reliability requires the use of untransformed cells.

Cell Line↗
PubMed1996

Effect of thalamic stimulation on gait in Parkinson disease.

OBJECTIVE: To assess the influence of ventral intermediate thalamic nucleus stimulation on gait in idiopathic Parkinson disease. DESIGN: Clinical and physiological assessments were compared in patients with and without ventral intermediate thalamic nucleus stimulation. SETTING: The research clinic of a university department of gait analysis. PATIENTS: Seven patients with idiopathic Parkinson disease who had long-term monopolar stimulation of the ventral intermediate thalamic nucleus to control a large-amplitude tremor. MAIN OUTCOME MEASURES: Gait kinematic parameters were autonomically recorded using the Vicon optoelectric system for movement analysis. Measures of locomotor displacement (cadence, walking speed, stride and step times, single and double support times, and stride and step lengths) were computed successfully during 2 conditions: stimulation on and off. Traces of ankle joint position were also analyzed for the left and right lower limbs and for the affected and unaffected lower limbs. RESULTS: No difference in mean values was observed between the 2 conditions. CONCLUSION: This study seems to confirm that ventral intermediate thalamic nucleus stimulation, effective in reducing tremor, does not modify gait parameters in idiopathic Parkinson disease.

Ankle Joint↗
PubMed1996

Lack of relation between genetic polymorphism of cytochrome P-450IID6 and sporadic idiopathic Parkinson's disease.

We investigated genetic polymorphism of the cytochrome P-450 CYP2D6 gene from white patients with idiopathic Parkinson's disease (IPD). The mutations of the CYP2D6 gene associated with the poor metabolizer (PM) phenotype of the debrisoquine/sparteine polymorphism were analyzed in DNA of 130 IPD patients by a polymerase chain reaction (PCR)-based DNA amplification combined with Xba I restriction fragment length polymorphism (RFLP) analysis in 105 patients. Another mutation located in exon 6 was analyzed by Hha I RFLP in 94 IPD patients. The frequencies of the different CYP2D6 gene mutations were compared to the frequencies in sex- and age-matched white control population with chronic bronchitis. The rate of genotypically defined PM and the frequencies of the different mutations were not significantly different in IPD patients and controls. These results fail to confirm the previously reported results concerning CYP2D6 gene mutations in IPD. These equivocal results might be related to methodologic problems. However, other hypotheses have been suggested: impairment of neuronal CYP 2D6 expression, transient modification of CYP 2D6 phenotype, or linkage of CYP2D6 gene to the candidate gene locus directly involved in IPD.

Aged↗
PubMed1996

Movement related desynchronisation pattern preceding voluntary movement in untreated Parkinson's disease.

OBJECTIVE: To study planning of movement in Parkinson's disease. METHODS: The spatiotemporal pattern of movement related desynchronisation (MRD) preceding a self paced voluntary wrist flexion was compared between two groups of 10 untreated right and left hemiparkinsonian patients receiving no treatment and 10 control subjects. The MRD was computed in the 9 to 11 Hz frequency band from 11 source derivations covering the frontocentral, central, and parietocentral areas, during two successive left and right experimental conditions. RESULTS: In the two patient groups the desynchronisation appeared over the primary sensorimotor area contralateral to the affected side with a shorter latency (750 ms before movement onset for the right hemiparkinsonian group and 875 ms for the left hemiparkinsonian group) than in the control group (1750 ms), only when the movements were performed with the akinetic hand. For the non-affected hand, the same latency as in the control group was noted (1750 ms). CONCLUSION: The delay of appearance of MRD in Parkinson's disease confirmed that the programming of movement is affected, thus partially explaining akinesia.

Aged↗
PubMed1995

[Huntington disease: disclosing the gene].

Huntington's disease is a neurodegenerative disease transmitted by dominant autosomal inheritance with complete penetration. The neurological and psychiatric signs and subsequent deterioration usually occur in adults after procuration, contributing to the persistence of this extremely debilitating disease. The gene was localized in 1983 and identified in 1993 as an increased number of nucleotide triplet (CAG) repetitions. There is clear evidence of the mutation and its clinical polymorphism. Preclinical diagnosis is possible but would raise a considerable number of questions, both in terms of ethics and practical application. Certain questions are still open to debate. What factors, probably genetic, influence the age of onset? What are the metabolic consequences of the genetic anomaly? Answers to these questions are needed for correct therapeutic management.

Chromosome Mapping↗
PubMed1995

Regressive dystonia and cerebellar ataxia: two unusual symptoms in central pontine myelinolysis.

Two patients with central pontine myelinolysis who presented with dystonia are described. In one, it was associated with cerebellar ataxia which spontaneously improved. In the second, dystonia progressively disappeared 6 months later. In both cases magnetic resonance imaging (MRI) revealed characteristic pontine lesions. Extrapontine myelinolysis involving the putamen was also observed in one patient. Even when the basal ganglia seem to be spared on MRI, dystonia is probably due to their involvement by myelinolysis. Cerebellar ataxia may be related to peduncular or cerebellar lesions or both.

Adult↗
PubMed1995

Octreotide effects on orthostatic hypotension in patients with multiple system atrophy: a controlled study of acute administration.

In nine patients with orthostatic hypotension due to multiple system atrophy, the effects of octreotide (100 micrograms s.c.), a somatostatin analogue, on blood pressure (BP), heart rate (HR), and norepinephrine (NE) plasma levels after 60 degrees head up tilt test were evaluated by a randomly controlled study. Octreotide increased supine BP, tilt-test duration (+28%), and delay to obtain minimal BP during the 60 degrees head up tilt (+50%). Octreotide changed neither HR nor NE plasma levels.

Aged↗