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P Labauge

Publications and source records attributed to P Labauge.

52 records · Page 3Linked to original sources
PubMed1994

[Familial hemiplegic migraine. Localization of a responsible gene on chromosome 19].

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. The aim of our study was the identification of the affected gene. The first step was the chromosomal mapping of the affected gene, for which we used a "candidate gene" strategy. The first candidate gene was the gene responsible for CADASIL. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lodsore > 8 was found with two markers that are strongly linked to CADASIL. Multilocus linkage analysis located the affected gene within an interval of about 30 cM on chromosome 19, containing the gene responsible for CADASIL. At this step it's not possible to conclude that CADASIL and familial hemiplegic migraine are due to the same mutated gene. It will be necessary to analyse other familial hemiplegic migraine and CADASIL families in order to reduce the size of their respective interval and ultimately identify the mutated gene(s).

Chromosomes, Human, Pair 19↗
PubMed1994

Genetic heterogeneity of familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was > .95 in the first two families and < .01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

Ataxia↗
PubMed1993

[Neurologic complications of cardiac myxomas].

Cardiac myxomas are rare tumours complicated by faintness or syncope usually occurring in upright position and due to obstruction of a cardiac valve orifice. Myxomas are also manifested by neurological deficits caused by myxomatous or fibrino-cruoric cerebral emboli. Intracranial aneurysms and metastases are exceptional. The simplest and most reliable diagnostic method is transthoracic two-dimensional cardiac echography. Treatment consists of surgical excision which has very low morbidity, mortality and recurrence rates.

Echocardiography↗
PubMed1993

A gene for familial hemiplegic migraine maps to chromosome 19.

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19.

Adolescent↗
PubMed1993

[Demyelinating nervous lesions in myalgia-eosinophilia syndrome induced by L Tryptophan].

A case of severe peripheral nerve lesions in a patient with eosinophilia-myalgia syndrome induced by L-Tryptophan is reported. Both superficial radial nerves were very tender on palpation. Biopsy of the radial nerve showed myelin abnormalities of the type observed in experimental chronic nerve entrapment. Nerve lesions included asymmetrical distortion of the myelin sheath, segmental demyelination, axonal degeneration and regeneration. Such abnormalities suggest that mechanical factors, presumably due to proliferation of connective tissue, play a role in the nerve lesions observed in this patient.

Demyelinating Diseases↗
PubMed1992

Identical genetic locus for Baltic and Mediterranean myoclonus.

Genetic linkage analysis shows that Baltic and Mediterranean myoclonus, two forms of progressive myoclonus epilepsy, are closely linked to marker D21S113 on the long arm of chromosome 21. Baltic and Mediterranean myoclonus are most probably due to mutations of the same gene.

Alleles↗
PubMed1991

[Neurologic complications of essential thrombocythemia. 6 cases].

Six cases of neurological complications of essential thrombocythemia are reported. Five were ischemic strokes and the clinical expression was heterogenous (transient ischemic attacks or completed strokes), in vertebro-basilar or carotid areas. There was no correlation between the nervous disorders and the severity of the thrombocythemia. In the last case, the patient presented with papillitis and peripheral neuropathy, and the relationship with thrombocythemia was not clear. It is suggested that thrombocythemia may directly induce an arterial or venous thrombosis or increase the severity of ischemic strokes of atheromatous origin.

Adult↗
PubMed1990

[Peripheral neurofibromatosis and involvement of lumbosacral nerves. Value of imaging].

We report a case of giant plexiform neurofibromatosis revealed by a sensori-motor, axo-myelinic polyneuropathy. Only the lumbar and sacral spinal nerves were involved in this peripheral form of Von Recklinghausen's disease. The polyneuropathy was due to compression of the nervous fibers by the neurofibromatous tumors. Ultrasonography DTPA 99 m Technetium scintigraphy, CT and MRI were the diagnostic procedures. MRI proved superior to CT in demonstrating the extent of the lesions. Biopsy confirmed the diagnosis. This form of neurofibromatosis did not involve the central nervous system, cranial nerves of cervicothoracic spinal nerves and roots; nor was there any visceral involvement, particularly endocrine neoplasia.

Adult↗
PubMedDate not supplied

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.

Cerebral cavernous angiomas malformations (CCM) can be inherited as an autosomal dominant condition. CCM1, a yet unidentified gene mapping on 7q21-q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect. Genetic heterogeneity in non Hispano-American families was established in two families. We conducted a genetic linkage analysis on 36 French CCM families using eight microsatellite markers mapping within the CCM1 interval. Admixture analysis showed that 65% of these families were linked to the CCM1 locus. Haplotypes analysis of CCM1-linked families did not show any evidence for a strong founder effect.

Brain Neoplasms↗