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P Labauge

Publications and source records attributed to P Labauge.

At least 37 records · Page 2Linked to original sources
PubMed2001

[Rapidly progressive dementia disclosing primary angiitis of the central nervous system].

Angiitis of the central nervous system involves a wide spectrum of clinical symptoms. Complementary exams (CSF, neuroradiological exams) are not very specific and sensitive. Diagnostic procedures often require cortical and leptomeningeal biopsy. Treatment, based on corticosteroids and cyclophosphamid, have greatly improved prognosis. We report a rapidly progress dementia syndrome that revealed angiitis of the central nervous system. Corticosteroid treatment did not prevent a fatal outcome. Autopsy findings confirmed the diagnosis of central nervous leucocytoclastic angiitis.

Aged↗
PubMed2001

[Inflammatory pathology of the spinal cord].

Diagnosis of myelopathy whatever its cause, is based on clinical findings: paraparesis, loss of sensibility, sphincterian disturbance. Diagnosis of myelopathy requires magnetic resonance imaging, which rules out compressive and vascular disorders. Main causes of inflammatory myelopathies are multiple sclerosis multisystemic disorders, infectious and post-infectious diseases. Absence of identifiable causes in one quarter of the cases leads to the diagnosis of idiopathic myelitis.

Diagnosis, Differential↗
PubMed2000

The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients.

Our objective was to determine the natural history and prognostic factors of familial forms of cerebral cavernous malformations (CCM). Cavernomas are one of the most common central nervous system vascular malformations. Familial CCM is increasingly diagnosed, but little is known about its natural history. In a national survey, we analysed clinical and MRI features of 173 patients from 57 unrelated French families. Of these 40 had undergone at least two clinical and MRI examinations. Occurrence of haemorrhage, new lesions, change in signal intensity and size of lesions have been studied by comparison between first and last MRI studies. The CCM were classified according to Zabramski et al. Mean follow-up was 3.2 years (range 0.5-6.5 years). We followed 232 cavernomas (mean 5.9 per patient, range 1-17). Serial MRI demonstrated changes in 28 patients (70%). Bleeding occurred in 21 lesions (9.1%) in 14 patients (35%). The haemorrhagic risk was 2.5% per lesion-year, higher in type I and brain-stem CCM. We saw 23 new lesions appear in 11 patients (27.5%), with an incidence of 0.2 lesions per patient year. Signal change was observed in 11 patients (27.5%), in 14 lesions (6%), while 9 lesions (3.9%) in 9 patients (22.5%) changed significantly in size.

Adolescent↗
PubMed2000

De novo lesions in familial form of cerebral cavernous malformations: clinical and MR features in 29 non-Hispanic families.

BACKGROUND: To evaluate clinical and MR features of de novo lesions (DNL) in the familial form of cerebral cavernous malformation (CCM) in 40 patients belonging to 29 unrelated non-Hispanic families. METHODS: Forty patients followed up by serial cerebral MR examinations were included in this retrospective study. First and last available MR examinations were retrospectively analyzed and compared for each patient to diagnose DNL. Gradient-echo (GRE) sequences were performed in only 11 of the 40 patients and were not considered for this study. Incidence of DNL was evaluated in terms of lesions/patient-year. All DNL were characterized by their clinical and MR features (location, size, type). Type of CCM was determined according to the classification of Zabramski (1994). Patient groups with and without DNL were compared for sex, age, number of pre-existing CCMs, and follow-up. RESULTS: Twenty-three DNL were recorded in 11 patients (27.5%) and the incidence was 0.2 lesions/patient-year (mean follow-up = 3.2 years). All but one DNL were asymptomatic. Twenty DNL were supratentorial and three were infratentorial. Mean diameter was 8 mm (2-35 mm). Six DNL were classified as type 1 (subacute hemorrhage), six as type 2 (hemorrhages and thromboses of varying ages) and 11 as type 3 (chronic hemorrhage with hemosiderin staining). No statistical difference between groups was found in terms of sex, age, or number of pre-existing CCMs. On the other hand, duration of follow-up was significantly longer in the group with DNL. CONCLUSION: The occurrence of DNL seems to be a hallmark of the familial form of CCM in non-Hispanic families as well as in Hispanic families. Such DNL are usually asymptomatic and are mainly classified as type 3 (chronic hemorrhage with hemosiderin staining). Within the limits of the retrospective study design and potential selection bias introduced by the varying indications for MR scanning, it does seem that DNL may occur at any time in the lifespan of CCM patients, and occurrence does not seem to depend on age, sex, or the total number of pre-existing lesions.

Adolescent↗
PubMed2000

Familial form of intracranial cavernous angioma: MR imaging findings in 51 families. French Society of Neurosurgery.

PURPOSE: To analyze the magnetic resonance (MR) imaging features of familial cerebral cavernous angioma in non-Hispanic families. MATERIALS AND METHODS: Between November 1996 and June 1997, 51 non-Hispanic families with familial cavernous angioma were identified. Cerebral MR images in 83 symptomatic subjects and 73 asymptomatic subjects were reviewed. Spin-echo (SE) and gradient-echo (GRE) MR imaging features of cavernous angioma were recorded and, in 91 subjects with both SE and GRE images, lesions were graded as type 1, 2, 3, or 4, according to a published classification scheme. MR imaging features were compared between symptomatic and asymptomatic subjects, and sensitivities of SE and GRE images were determined. RESULTS: Multiple lesions were more common than single lesions in both symptomatic and asymptomatic subjects, with no difference in mean number of lesions between groups. More lesions were detected on GRE images than on SE images. Type 1 and type 2 lesions were more numerous in symptomatic than in asymptomatic subjects. The numbers of types 2, 3, and 4 lesions increased with age in both groups. CONCLUSION: The familial form of cavernous angioma is characterized by multiple lesions and by a correlation between lesion number and subject age. The clinical manifestation may be more closely related to the type of lesion than to the number of lesions. GRE MR images are more sensitive than SE images for demonstration of cavernous angioma.

Adolescent↗
PubMed1999

An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.

Cerebral cavernomas (CCMs) are vascular malformations that may be inherited as an autosomal dominant condition for which a gene, CCM1, was mapped to chromosome 7. Poorly defined cutaneous malformations were sometimes described in association with CCMs. During a national survey, 57 French CCM families were studied. Co-occurrence of CCMs and a distinctive cutaneous vascular malformation was observed in 4 families. Ten individuals belonging to these families showed similar hyperkeratotic cutaneous capillary venous malformations (HCCVMs). In 3 families, the histology showed orthokeratosis and hyperkeratosis as well as dilated capillaries in the dermis extending to the hypodermis and confirmed the diagnosis of HCCVM. Genetic analysis strongly supports linkage of these families to the CCM1 locus on chromosome 7. The HCCVM seems to be a peculiar cutaneous vascular malformation associated with CCMs. These data strongly suggest that HCCVMs and CCMs in these families are due to the same genetic abnormality.

Adult↗
PubMed1999

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.

Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited as an autosomal dominant condition in as much as 50% of cases. Cerebral cavernous malformations (CCM) loci were previously identified on 7q, 7p and 3q (refs 4,5). A strong founder effect was observed in the Hispano-American population, all families being linked to CCM1 on 7q (refs 4,7). CCM1 locus assignment was refined to a 4-cM interval bracketed by D7S2410 and D7S689 (ref. 8). Here we report a physical and transcriptional map of this interval and that CCM1, a gene whose protein product, KRIT1, interacts with RAP1A (also known as KREV1; ref. 9), a member of the RAS family of GTPases, is mutated in CCM1 families. Our data suggest the involvement of the RAP1A signal transduction pathway in vasculogenesis or angiogenesis.

Amino Acid Sequence↗
PubMed1998

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

BACKGROUND: Cavernous angiomas, which are vascular malformations mostly located in the central nervous system, may be inherited as an autosomal dominant disorder known as familial cerebral cavernoma (FCC). FCC has been studied in Hispanoamerican families, in which a strong founder effect was shown. We studied the families of 57 non-Hispanic patients with cavernous angiomas. METHODS: All 28 neurosurgery centres in France collaborated in the study. Inclusion criteria were: families of index patients known to have at least one clinically affected relative, and families of index patients with multiple cavernous angiomas who initially presented as sporadic cases. Clinical and cerebral magnetic resonance imaging (MRI) investigations were done in all patients and in other at-risk individuals who consented to take part. FINDINGS: On MRI, 16 of 22 sporadic index patients had relatives with cavernous angiomas. 51 multiple-case families, including 100 patients with symptoms and 164 symptom-free individuals had MRI lesions. Most FCC patients had multiple lesions and there was a strong correlation between number of lesions and age (p<0.01). The sensitivity of gradient-echo sequences was higher than that of standard MRI for detection of small cavernous angiomas. Pattern of inheritance was autosomal dominant, with incomplete clinical penetrance. The occurrence of de-novo mutations was strongly suggested in some families. INTERPRETATION: Neuroimaging penetrance of FCC is much higher than clinical penetrance. 75% of sporadic cases with multiple lesions are in fact familial cases. The proportion of patients developing clinical symptoms is higher in the hereditary form than in the sporadic form of the disorder.

Adolescent↗
PubMed1998

[Friedreich's ataxia and hereditary vitamin E deficiency. Case study].

A 24-year-old patient, born from consanguineous parents, consulted for cerebellar syndrome, ataxia, loss of proprioception, bilateral Babinski sign and lower limbs areflexia. No mutation on Friedreich's ataxia gene was found. Plasmatic vitamin E level was extremely low. Point mutation on gene coding for alpha-tocopherol transfer protein (alpha-TTP) confirmed the diagnosis of familial isolated vitamin E deficiency (AVED). Vitamin E therapy restored normal serum levels and neurological symptoms were stabilized.

Adult↗
PubMed1997

Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene.

Mediterranean myoclonus is a progressive myoclonus epilepsy with autosomal recessive inheritance. Another form has been described in Finland, the so-called Baltic myoclonus. Mediterranean myoclonus and Baltic myoclonus are also known as Unverricht-Lundborg disease. Linkage analyses have shown that the genes for both these forms of myoclonus are closely linked to 21q22.3 DNA markers, suggesting that they are caused by mutations at the same locus (EPM1). Recently, two heterozygous mutations were found in the cystatin B gene in patients with Unverricht-Lundborg disease. We report recombinational and linkage disequilibrium mapping of EPM1, and cystatin B gene sequencing, in 14 consanguineous pedigrees with Mediterranean myoclonus. Linkage to 21q22.3 DNA markers was observed in all these families. Haplotype analysis suggests that a common mutation segregates within these pedigrees, and that this mutation is different from the common one responsible for the Finnish form of Unverricht-Lundborg disease. No mutation was found in the exons or splice junctions of the cystatin B gene in the 14 pedigrees.

Base Sequence↗
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↗