Biomedical subjects

Anne Ducros

Publications and source records attributed to Anne Ducros.

5 recordsLinked to original sources

PubMed2005

A negative D-dimer assay does not rule out cerebral venous thrombosis: a series of seventy-three patients.

BACKGROUND AND PURPOSE: Cerebral venous thrombosis (CVT) is an infrequent variety of cerebrovascular disease with a wide spectrum of clinical presentations and a notoriously difficult diagnosis. Previous reports have emphasized the potential clinical utility of D-dimer assay in CVT diagnosis. METHODS: A rapid sensitive D-dimer assay was performed at entry in 73 patients with CVT <30 days duration, examined in our institution between 1999 and 2003. RESULTS: The mean value of D-dimer levels was 1521 ng/mL; 7 patients (10% of all patients and 26% of those presenting with isolated headache) had values <500 ng/mL. In a multivariate analysis, isolated headache was the only variable associated with a negative D-dimer assay. CONCLUSIONS: A negative D-Dimer assay does not confidently rule out CVT, particularly in the setting of recent isolated headache.

Adult↗

PubMed2005

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.

Amino Acid Sequence↗

PubMed2003

[Cluster headache].

Cluster headache is characterized by recurrent unilateral attacks of headache of great intensity and brief duration (15-180 minutes), accompanied by local signs and symptoms of autonomic dysfunction including conjunctival injection, lacrimation, nasal congestion, rhinnorrhea, forehead and facial sweating, miosis, ptosis or eyelid edema. Attacks occur in so-called cluster periods lasting for weeks or months. About 10% of patients have chronic symptoms with no period of remission. There are only two abortive treatments with proven efficacy: subcutaneous sumatriptan and nasal oxygen inhalation. Prophylactic treatment is often needed to reduce the daily frequency of attacks: verapamil in episodic cluster headache and lithium in chronic cluster headache.

Cluster Headache↗

PubMed2002

The genetics of migraine.

The search for genes involved in the pathophysiology of migraine poses major difficulties. First, there is no objective diagnostic method to assess the status of the individuals studied. Second, migraine is a polygenic multifactorial disorder. Familial hemiplegic migraine (FHM) is the only known autosomal dominant subtype of migraine. In half the families with FHM who have been studied, there are mutations in the calcium-channel gene CACNA1A, located on chromosome 19. In other families, a locus has been mapped on chromosome 1. The role of these loci in typical migraine is still unknown. A susceptibility locus for migraine with aura has been located on chromosome 19 (but is distinct from CACNA1A) and a genome-wide linkage analysis has mapped a susceptibility locus on chromosome 4. Another locus for migraine may be on the X chromosome. Finally, many positive association studies have been published, but few have been replicated.

Calcium Channels↗

PubMedDate not supplied

Familial cluster headache: a series of 186 index patients.

OBJECTIVE: To investigate the familial occurrence of cluster headache in a series of French patients fulfilling the International Headache Society diagnosis criteria. METHODS: One hundred eighty-six index patients and 624 first-degree relatives were surveyed. RESULTS: A positive family history of cluster headache was found in 20 index patients (10.75%) with 22 affected first-degree relatives (3.4%). In multiplex families 6 of the 68 second-degree relatives that were contacted had cluster headache. CONCLUSION: No precise mode of inheritance could be drawn from the observed repartition of cases within multiplex families.

Adult↗