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Biomedical subjects

J L Devoize

Publications and source records attributed to J L Devoize.

At least 19 recordsLinked to original sources
PubMed1999

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two EA2 families and in one sporadic case. These three mutations disrupted the reading frame and led to truncated proteins. Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). However, except for SCA-6, these genotype-phenotype correlations relied on the analysis of very few families. METHODS: To characterize CACNA1A mutations, eight familial and seven sporadic EA2 patients were selected. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis. In addition, the length of the CAG repeat has been determined in all patients. RESULTS: Seven new mutations were detected in four multiple case families and three sporadic cases. Six of them lead most likely to truncated or aberrant proteins. CAG repeat sizes were in the normal range. CONCLUSION: These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).

Adolescent↗
PubMed1998

[Case of superficial hemosiderosis of the central nervous system treated with trientine].

A 58-year-old woman, with recurrent headaches, exhibited cerebellar alaxic gait, anosmia, deafness and a pyramidal syndrome, with a progressive onset. In cerebrospinal fluid there was erythrocytes and siderophages. MRI on T2-weighted images revealed a marginal hypo-intensity, leading to the diagnostic of superficial siderosis of the central nervous system. None haemorragic lesion was found. The patient was given Trientine. Unfortunately she worsened on later examinations.

Brain↗
PubMed1986

Chronic administration of clomipramine inhibits morphine hot plate analgesia.

Clomipramine, chronically administered in mice, for 3 days, inhibits partially but significantly morphine analgesia in the hot plate test, when used at dose of 10 mg/kg/day, i.p.; 2.5 and 5 mg/kg/day were ineffective. Neither higher doses (20 and 40 mg/kg/day) nor longer duration of pretreatment (8 and 16 days) modified the intensity of this inhibition. Reduction in morphine analgesia was obtained after a 24h delay between the last injection of clomipramine and that of morphine (30 min before testing), while clomipramine did not induce any antinociceptive effect and clomipramine and desmethylclomipramine plasma and brain levels were low or undetectable. These results provide new evidence for the interaction between clomipramine and the endogenous opiate system. A pharmacokinetic interaction between clomipramine and morphine was excluded; involvement of change in opiate and 5 HT2 receptors by chronic administration of clomipramine is discussed.

Analgesia↗
PubMed1985

[Benign paralysis of the last 4 cranial nerves. Arguments in favor of an ischemic mechanism].

The last four cranial nerves are fed by the ascending pharyngeal artery, a branch of the external carotid artery. The fact that paralysis of these nerves may occur immediately after arteriography of the external carotid artery demonstrates that ischaemic truncular neuropathies do exist. The deficit is sudden and usually regressive. Ischaemia may account for regressive paralysis of these nerves reported in diabetes, herpes zoster and after some traumas. Apparently idiopathic and benign paralysis might be due to the same mechanism. All 4 nerves may be affected, or only the IXth, Xth and XIth nerves, or the XIth nerve may be spared, being fed by two arteries. Apart from the obvious case of arteriographic accident, the diagnosis of paralysis of ischaemic origin can only be made after other causes, notably compression, have been excluded, since direct evidence of arterial obstruction is exceptionally obtainable; regression at follow-up is a major argument in favour of ischaemia.

Accessory Nerve↗
PubMed1985

[Acute parasellar compression syndrome disclosing hypophyseal adenoma. 3 cases].

Three cases of acute necrosis of a hypophyseal adenoma are reported with a review of the medical literature. The clinical presentation as an acute parasellar compression syndrome was the result of aseptic meningitis in 2 cases and of cavernous sinus thrombosis in the other; the usual symptoms of headaches, oculomotor paralysis and impairment of consciousness were observed. The diagnosis was suspected on clinical grounds, by the radiological changes of the pituitary fossa and confirmed by computerised axial tomography. All three patients had a favourable outcome. Surgery was only required in one case with threatening visual complications. Dissociated anterior pituitary deficiency persisted in all cases; two patients also had diabetes insipidus. In one case, the pituitary necrosis stabilised an acromegaly for a two year period.

Adenoma↗
PubMed1984

[Clinical and pharmacologic aspects of the analgesic effect of tricyclic antidepressants].

Although tricyclic antidepressants have now been used for more than 20 years in the treatment of chronic pain, controlled studies of their effectiveness are quite recent. The best results are obtained in pain due to peripheral nerve lesions, and high doses are recommended. In contrast with the slow onset of their effect on depression, these drugs promptly relieve pain, which suggests two different mechanisms of action. The analgesic mechanism is unknown; some data indicate that serotonin is involved but an action on the adrenergic system cannot be ruled out. The arguments supporting the recent endorphin hypothesis are reviewed, ad a possible relationship between tricyclic antidepressants and endorphins is envisaged.

Analgesics↗
PubMed1984

[Delayed contralateral hemiplegia complicating ophthalmic herpes zoster].

Contralateral hemiplegia may develop a few weeks after the onset of an ophthalmic herpes zoster. This complication, which is not part of the herpetic encephalopathy, generally coexists with lesions of arteritis demonstrable by arteriography, affecting in most cases the proximal segments of the middle and anterior cerebral arteries and resulting in infarcts. The pathophysiology of these lesions is uncertain, but the vessels appear to be invaded by contiguity.

Aged↗