Search PubMed⌕ Search

Biomedical subjects

J F Foncin

Publications and source records attributed to J F Foncin.

At least 19 recordsLinked to original sources
PubMed1992

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene.

Mutations in the beta-amyloid precursor protein (APP) gene have been associated with both familial Alzheimer disease (FAD) and with hereditary cerebral haemorrhage. The polymerase chain reaction was used to both amplify and sequence exon 4 of the APP gene from genomic DNA of subjects with FAD and normal control subjects. A novel, rare, conservative DNA sequence variant was discovered at nucleotide 459 of codon 153 (valine) in exon 4 of the APP gene in an affected member of a large FAD pedigree. Segregation studies indicate that this mutation is likely to be non-pathogenic, but must be recognized and discriminated from pathogenic mutations during sequencing studies of the APP gene in patients with FAD.

Amyloid beta-Protein Precursor↗
PubMed1992

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on chromosome 19. We now provide evidence for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D14S53 (multipoint lod score z = 23.4) and suggest that the inheritance of FAD may be more complex than had initially been suspected.

Aged↗
PubMed1991

Relationship between non-fibrillary amyloid precursors and cell processes in the cortical neuropil of Alzheimer patients.

We examined the ultrastructural localization of amyloid beta-protein in 8 Alzheimer neocortical biopsies. Intense immunoreactivity was located extracellularly on amyloid fibrils and amorphous material. Amorphous labelled material was also found in cell processes. No ultrastructural cell marker, such as glial fibrils, glycogen, tubules, paired helical filaments (PFHs) or synaptic vesicles could be seen in these processes that could allow their identification as glial processes, neurites or presynaptic terminals, respectively; occasional membrane stacks were observed. These findings suggest that preamyloid deposits are related to cell processes and, by elimination, that postsynaptic terminals may be involved in abnormal metabolism of the amyloid fibril precursors.

Aged↗
PubMed1991

[The transition zone of the central nervous system-peripheral nervous system of the adult rat; ultrastructural and immunocytochemical studies: a new function of the astroglia?].

At the transition between central nervous system (CNS) and peripheral nervous system (PNS), the CNS compartment forms cone-shaped incursions into the peripheral part of the dorsal root. The ultrastructural study of the CNS-PNS transitional zone shows that this region is particularly rich in astrocyte processes. In an attempt to investigate the possible role of the CNS-PNS interface astrocytes in myelin formation, a photonic microscopy immunocytochemical study has been done with anti-GFAP and anti-MBP sera. The CNS glial expansion shows an important GFAP immunoreactivity with intimate association between astrocyte processes and myelinated axons. This may indicate that the transitional myelin originates from astrocytes. The same region is also MBP-positive. Two explanations are considered: some astrocytes form transitional myelin sheathes and express MBP epitopes, or oligodendrocytes, with cell bodies distant from the CNS-PNS interface, send myelinating cytoplasmic expansions which are not shown by the techniques we used.

Animals↗
PubMed1990

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

Alzheimer's disease, a fatal neurodegenerative disorder of unknown aetiology, is usually considered to be a single disorder because of the general uniformity of the disease phenotype. Two recent genetic linkage studies revealed co-segregation of familial Alzheimer disease with the D21S1/S11 and D21S16 loci on chromosome 21. But two other studies, one of predominantly multiplex kindreds with a late age-of-onset, the other of a cadre of kindreds with a unique Volga German ethnic origin, found absence of linkage at least to D21S1/S11. So far it has not been possible to discern whether these conflicting reports reflect aetiological heterogeneity, differences in methods of pedigree selection, effects of confounding variables in the analysis (for example, diagnostic errors, assortative matings), or true non-replication. To resolve this issue, we have now examined the inheritance of five polymorphic DNA markers from the proximal long arm of chromosome 21 in a large unselected series of pedigrees with familial Alzheimer's disease. Our data suggest that Alzheimer's disease is not a single entity, but rather results from genetic defects on chromosome 21 and from other genetic or nongenetic factors.

Alzheimer Disease↗
PubMed1990

Intracranial meningiomas in elderly patients. Postoperative morbidity and mortality. Factors predictive of outcome.

We studied retrospectively a series of 96 patients (36 men, 60 women), older than 65 years of age (mean age: 70 +/- 4 years, range 65-82), operated upon for an intracranial meningioma from October 1978 to December 1988. Fifty-two patients (54%) were under 70, 32 between 71 and 75 and 12 over 75 (46%). The tumours were diagnosed for all the patients by CT scan. Thirty-four (35%) were located over the convexity, 24 (25%) in the falx/parasagittal region, 38 (40%) in the base, tentorium and posterior fossa. Neurological and physical conditions were assessed preoperatively and at the closing date in June 1989. Operative mortality was 16% (15/96). Patients were divided into two groups: poor outcome, defined by the death or a post-operative Karnofsky index less than or equal to 70 (n = 36), and good outcome defined by a Karnofsky index of 80 or more (n = 60). The two groups did not differ regarding age, sex ratio, tumour size and peritumoural oedema. The only predictors of poor outcome were poor preoperative general health condition (stage III of the American Society of Anesthesiology classification), (p less than 0.01), poor preoperative neurological condition (Karnofsky's index) (p less than 0.001), and location of the tumour on the base or in posterior fossa (p = 0.02).

Aged↗
PubMed1990

[Loss of dendritic spines in Alzheimer's disease].

Neurones from five patients with Alzheimer's disease were studied semi-quantitatively on Golgi impregnated samples of cerebral cortex. They showed a dramatic reduction in dendritic spine number of pyramidal and non-pyramidal cells of all neocortical layers, as compared with control samples matched for age. Dendritic spine loss could be an initial phenomenon in Alzheimer's disease pathology.

Aged↗
PubMed1990

[Ependymoma of the intradural filum terminale in adults. 20 cases].

Twenty cases of ependymomas of the intradural filum terminale in adults have been reviewed. Their pathology was quite uniform, of a myxopapillary type, similar to the low grade ependymoma described by Kernohan, which represent about 23% of the tumours of cauda equina. Mean age of the patients was 35.7 years. Mean time between the first symptom and the diagnosis was 46 months. Clinical symptoms were often non specific, with low back pain and radiculalgias. At the time of operation, clinical signs were essentially motor deficits usually moderate (11 cases), sphincter disturbances (10 cases), and sensory loss (9 cases). In 3 patients with rapid worsening, an intratumoral haemorrhage was found. In 2 other cases, intracranial hypertension was the main symptom: in the first, it was related to hydrocephalus probably caused by spinal subarachnoid haemorrhage; in the second, there was no ventricular dilatation. In this series, neuroradiological examinations had consisted mainly in myelographies. C.T. scan has been performed in 3 patients; in only one case it has allowed to visualize a presacral extension. One patient had preoperative M.R.I.: the association of an expansive lesion with upper cyst in conus medullaris and presence of blood in the sacral area permitted the diagnosis of ependymoma of the filum terminalis. The average size of the tumours was 8 cm. Total removal has been possible in 15 cases (and in 2 of the 5 giant tumours), subtotal removal in 2 cases, and partial removal in 3 cases. In 4 patients where existed an intraspinal cord extension above the conus, it has been resected completely, except for one case with recurrence. Patients with a total removal had a good functional recovery (13/15). No recurrence has been observed in this group. In conclusion, with M.R.I., one may hope an earlier diagnosis, condition of radical surgery. So, radiotherapy which is not without risk, could be avoided.

Adolescent↗
PubMed1990

[The prognosis of medulloblastoma in adults].

We studied retrospectively the series of 24 patients (17 men, 7 women), median age 25.5 years (range: 16-57), operated upon for a cerebellar medulloblastoma from March 1979 to June 1988. The tumors were diagnosed for all the patients by C.T. scan and by M.R. imaging for the six last patients. Seven tumors (29.2%) were located in the fourth ventricle, 2 in the vermis (8.3%), 9 in the cerebellar hemisphere (37.5%), 5 in the vermis and cerebellar hemisphere (20.8%). One patient had a diffuse infiltration of the cerebellum. All patients have been operated on (complete removal: 15 patients (62.5%), subtotal removal: 8 patients (33.3%), biopsy: 1 patient). Operative mortality was 8.3% (2/24). One patient died at two months from septicemia. The twenty-one surviving patients received radiotherapy. Twelve patients received both radiotherapy and chemotherapy. Six patients (25%) died during the follow up at 17, 22, 24, 60, 84 and 85 months. One patient is lost to follow up at 45 months and 13 patients are living at the closing date (June 1989). For the total group (n = 24) the probability of survival at 5 years was 64.8% (C.I. 95%: 42.8%-86.8%). Among the 21 patients who received radiotherapy alone or radiotherapy and chemotherapy the probability of survival at 5 years was 74.4% (C.I. 95%: 52.2%-96.7%). We studied the following predictors of poor outcome: age, sex, prognosis subgroups as defined by Chang et Coll., extension of tumor removal, adjunction of chemotherapy, histology. None of these factors was statistically related to the survival duration.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1989

[Intramedullary neurenteric cyst without an associated malformation. Case report].

The authors report a case of an intramedullary neurenteric cyst without any associated dysraphic lesion. Unlike extramedullary intradural forms, this type of malformation remains rare. Our observation is one of the first to have been evaluated by magnetic resonance imaging. Theories concerning the embryogenesis of neurenteric cysts as well as their clinical characteristics and surgical treatment are discussed.

Adult↗
PubMed1989

Temporal arteritis revealed by upper limb gangrene.

An 80-year-old white man presented with gangrenous lesions involving several distal phalanges of his left hand and an elevated erythrocyte sedimentation rate (ESR). Temporal artery biopsy showed patchy destruction of the internal elastic lamina by mononuclear cell infiltration, consistent with the diagnosis of temporal arteritis. After amputation of gangrenous lesions, he was discharged taking prednisone (60 mg/day). Twelve months after discharge there was no recurrence of ischemic manifestations and ESR was normal. Association of digital gangrene and elevated ESR should alert the clinician toward this diagnosis once other diseases such as atherosclerosis, scleroderma, lupus erythematosus, periarteritis nodosa have been ruled out.

Aged↗
PubMed1988

[Absence of a close linkage between Alzheimer's disease and the polymorphic probe coding for superoxide dismutase 1].

The hypothesis of a tight linkage between Alzheimer's disease (AD), a presenile dementia, and the probe coding for superoxide dismutase 1 (SOD 1), located on chromosome 21 at 21q22, has been investigated in a large family originating from Calabria, in which AD is transmitted as an autosomal dominant mendelian trait. Analysis of the Msp I restriction polymorphism, after molecular hybridization with the probe of DNAs coming from 22 subjects of the pedigree, allowed to the demonstrate that there wasn't any tight linkage between AD and the marker studied.

Alleles↗
PubMed1988

[EGF receptors (epidermal growth factor) and steroid receptors in human meningioma].

Epidermal growth factor receptor (EGF-R) were assayed by 125I-EGF binding in 28 surgical samples of human meningiomas. High affinity EGF-R were found in 26/28 tumors (92 p. 100) at concentrations ranging from 20 to 410 femtomoles per mg of membrane protein (fmol/mg prot. mb.). In 18/26 cases (64 p. 100), the EGF-R concentration was between 95 and 230 fmol/mg prot. mb. No relationship was found between the EGF-R level and the site or histopathology of the tumor. The only noticeable observations were the low levels of EGF-R in the 3 anaplasic meningiomas as compared to the whole population and the undetectable level of EGF-R in the angiomatous tumors. In addition, no correlation was found between EGF-R levels and the hormonal status of the patients, nor between EGF-R levels and the intratumoral concentration of progesterone receptors assayed simultaneously. The biological relevance of EGF-R in meningioma is discussed in this context.

Adult↗
PubMed1987

[Immunocytochemical study at the ultrastructural level of neurofibrillary degeneration in Alzheimer's disease].

Paired Helical Filaments (PHF), as demonstrated at the ultrastructure level, are one of the main pathological landmarks of Alzheimer's disease (AD). A polyclonal rabbit antiserum raised against PHF had been shown to label tangles and the periphery of plaques at the light microscope level. The same antiserum labels PHF specifically at the ultrastructure level, as demonstrated with a postembedding immunogold technique. Normal cytoskeleton constituents and plaque amyloid were not labelled. Specific labelling of a characteristic landmark may be a clue for a biological marker of AD.

Alzheimer Disease↗
PubMed1986

[Absence of linkage between Alzheimer's disease and the HLA system].

The study of a family in which multiple cases of Alzheimer's disease occurred in several generations offers the opportunity to test the genetic transmission of this disease. The HLA grouping of the members of a pedigree containing 10 affected members allowed to demonstrate that the disease is not due to a single dominant gene linked to the major histocompatibility complex. Although a more complex involvement of the major histocompatibility complex cannot be totally ruled out it is obvious that a strong linkage does not exist between Alzheimer's disease and HLA.

Alzheimer Disease↗