PubMed Health⌕ Search

Biomedical subjects

G Coquillat

Publications and source records attributed to G Coquillat.

At least 19 recordsLinked to original sources
PubMed1995

Lafora disease is not linked to the Unverricht-Lundborg locus.

Lafora disease and Unverricht-Lundborg disease are two forms of progressive myoclonus epilepsies (PME). Recently the gene for Unverricht-Lundborg disease (EPM1) was mapped to chromosome 21q22.3. Using three highly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank the EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease. Linkage was excluded in three North-African pedigrees each comprising at least two affected individuals. This result suggests that differential diagnosis of Lafora disease and Unverricht-Lundborg disease may be facilitated by molecular genetic analysis.

Adolescent↗
PubMed1983

[Anomalies in fatty acids distribution and superoxide dismutase activity in lymphocytes of an adult with atypical ceroid lipofuscinosis].

A 27-year-old Algerian patient presented a slowly progressive disease clinically characterized by a cerebellar syndrome, absence of deep reflexes, bilateral sign of Babinski, deep sensory disturbances, ophthalmologic disorders and pes cavus. The diagnosis of ceroid lipofuscinosis resulted from the presence of lipofuscin deposits evidenced as autofluorescent bodies, and a particular type of curvilinear, crystalloid ultrastructural inclusion bodies in muscle, lymphocytes and liver. Biochemical tests showed reduction in levels of linoleic and arachidonic acids, and of superoxide dismutase activity in lymphocytes. These findings suggest that the biochemical anomalies result from disturbances in polyunsaturated fatty acids metabolism. These results can be related to pathogenetic hypotheses for ceroid lipofuscinosis suggesting a predominant role for peroxidation of fatty acids.

Adult↗
PubMed1982

Stuporous episodes during treatment with sodium valproate: report of seven cases.

Of 13 patients with complex partial seizures who experienced stuporous states during treatment with sodium valproate (VPA), 4 received VPA only, 4 VPA and phenobarbital (PB) and 5 VPA, PB, and a third anticonvulsant. Seven cases were described in detail. Side effects-stupor or confusion-appeared a few days after efficacious drug plasma levels were attained, persisted until therapy was readjusted, and disappeared 24 to 72 h after VPA withdrawal. Therapeutic trials established the role of VPA in the onset of stuporous states. The adverse effects of VPA were potentiated by the concomitant administration of other anticonvulsants. Stupor was not due to VPA overdoses, and plasma concentration of the drugs were not correlated with the electroclinical signs. The EEG showed spike and wave discharges or continuous sharp theta and delta waves persisting during VPA treatment. The fact that all 13 stuporous, VPA-treated patients were subjected to partial seizures with complex symptomatology, and none were cases of generalized epilepsy, together with the observations that the disturbances of consciousness started with focal symptoms and EEG signs resembling those of spontaneously occurring partial seizures, suggest that VPA given alone or in association with other antiepileptics has a paradoxical epileptogenic effect in certain forms of epilepsy.

Anticonvulsants↗
PubMed1981

[An autosomal recessive syndrome with myopathy and central and peripheral nervous system involvement (author's transl)].

Three of 11 children, offspring of a consanguineous marriage, presented a progressive myopathy and seizures, associated with symptoms suggesting both central and peripheral nervous system involvement. The ultrastructural muscular lesions were not specific. The association of severe impairment of muscle tissue and of central nervous system is rare, being described in centronuclear myopathy, cerebromuscular dystrophy, Kearns-Sayre syndrome and in a few isolated cases. Clinically only these isolated observations and especially the Kearns-Sayre syndrome demonstrate analogies to our observations. These data lead us to the discussion of the specificity of ultrastructural lesions, especially mitochondrial abnormalities. Some authors consider these abnormalities to be the biochemical hallmark for ophthalmoplegia plus, whereas for others, especially Drachman, they are an inconstant and nonspecific finding, merely the consequence and not the cause of this disease. These observations argue for the relationship between muscular pathology and nervous system dysfunction.

Adenosine Triphosphatases↗
PubMed1981

Treatment of Huntington disease with gamma-acetylenic GABA an irreversible inhibitor of GABA-transaminase: increased CSF GABA and homocarnosine without clinical amelioration.

gamma-Acetylenic GABA (GAG, RMI 71.645), a potent irreversible inhibitor of gamma-aminobutyric acid transaminase, was given orally in various dosage schedules to 14 patients with Huntington disease. The biochemical effects of the drug on cerebrospinal fluid (CSF) concentrations of gamma-aminobutyric acid (GABA) and the GABA-containing dipeptide, homocarnosine, were measured in 10 of 14 patients. Treatment with GAG increased CSF concentrations of GABA and homocarnosine as compared to pretreatment values, suggesting that the drug increased brain GABA concentration. Despite this neurochemical effect, the clinical state was not improved. Except for single seizure episodes in five patients, GAG therapy was well tolerated. These results do not exclude the possibility that agents that augment CNS GABAergic function may prove useful in therapy of Huntington disease.

4-Aminobutyrate Transaminase↗
PubMed1978

[Fisher's syndrome. Peripheral or central origin (author's transl)].

The syndrome described by M. Fisher in 1956 includes ophtalmoplegia, ataxia, and generalized loss of reflexes. It is classically considered to be of peripheral origin and its relation to Guillain and Barre's syndrome in its mesencephalic form is debatable. The authors review 5 cases and discuss the question of a probable central origin. They base their opinion on the pathognomonic features of these cases and those in the literature, as well as the results of their oculographic and electromyographic studies. They stress the importance of the nature of the ataxia; the severe equilibrium disturbances noted in these patients could result, contrary to usual thinking, more from a central vestibular syndrome than from a cerebellar lesion.

Adolescent↗
PubMed1978

Automated assay of gamma-aminobutyric acid in human cerebrospinal fluid.

We describe an automated amino acid analyzer with fluorescence detection (o-phthalaldehyde) which permits sensitive and rapid determinations of gamma aminobutyric acid in human cerebrospinal fluid. Concentrations as low as 50 nmol/liter can be accurately determined in 100 mul samples at the rate of one sample per hour. Concentrations in untreated cerebrospinal fluid increase rapidly after sampling by lumbar puncture. The concentration in immediately deproteinized samples from 38 patients with intervertebral disc disorders was 220 +/- 81 nmol/liter (mean +/- SD).

Amino Acids↗
PubMed1976

Plasma dopamine beta-hydroxylase in a noradrenalin-secreting pheochromocytoma.

Circulating dopamine beta-hydroxylase activity was studied in a case of a hypertensive patient bearing a pheochromocytoma. The tumour secreted noradrenalin. The enzyme activity was found to decrease gradually after removal of the tumour, and to reach a stable value, in correlation with the decrease of urinary catecholamines. It is concluded that some pheochromocytoma tumours are able to secrete dopamine beta-hydroxylase.

Adult↗
PubMed1976

[Dopamine beta hydroxylase. Value and limits of its study in neurology].

Plasma dopamine-beta-hydroxylase was studied in 96 subjects, 33 of them controls and 63 of them patients (Parkinson's disease, chronic chorea, torsion dystonia, postural tremor and epilepsy). Only the epileptics showed a significant decrease in the average level of dopamine-beta-hydroxylase activity in comparison with the controls. During the cold test, DBH did not vary except in one case. On the other hand, during epileptic attacks, DBH activity underwent considerable fluctuations. Therefore, except in special pathological conditions, such as epileptic attacks, measurement of plasma or serum DBH activity is of limited value for neurological pathology and is not a good indication of the activity of the sympathetic nervous system.

Amantadine↗
PubMed1975

Human circulating dopamine-beta-hydroxylase and epilepsy.

The activity of circulatory dopamine-beta-hydroxylase (DBH) in humans is shown to be lower in some epileptic subjects than in normal subjects. The activity of the enzymes was found to be dramatically low in subjects who experienced an epileptic seizure 24 hrs before DBH activity was determined. The activity varied through the course of epileptic seizures induced by a convulsant drugs and these variations might be due to the "en masse" changes of the sympathetic nervous system.

Adolescent↗
PubMed1975

[Epileptic attacks in cerebral arterial pathology. Clinical findings].

The authors analyse, with reference to 107 cases, the incidence of epileptic attacks in different types of non-traumatic arterial pathology of the brain. They describe their various clinical and evolutive aspects and attempt to isolate those peculiar to critical manifestations of this type occurring in the course of cerebral vascular accidents.

Cerebral Hemorrhage↗